No Selection
"""Bulls eye"" maculopathy"
'Fork and bracket' syndrome
17 20 lyase deficiency
17 alpha hydroxylase deficiency
17 alpha hydroxylase/17 20 lyase deficiency
17 beta hydroxysteroid dehydrogenase 3 deficiency
1q21.1 microdeletion syndrome modifier
1q21.1 microduplication syndrome modifier
2 Methylbutyryl CoA dehydrogenase deficiency
2 aminoadipic & 2 oxoadipic aciduria
2 ketoadipic aciduria
2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency
2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency without neurological regression
2-3 toe syndactyly
2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria
21 hydroxylase deficiency
21 hydroxylase deficiency intermediate form
21 hydroxylase deficiency non classical
21 hydroxylase deficiency simple virilizing form
21 hydroxylase deficiency with salt wasting
21 hydroxylase deficiency without salt wasting
25 hydroxyvitamin D deficiency
3 M syndrome
3 Methylglutaconic aciduria type 1
3 beta hydroxysteroid dehydrogenase deficiency
3 beta hydroxysteroid dehydrogenase deficiency partial
3 beta hydroxysteroid oxidoreductase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency
3 hydroxy 3 methylglutaric aciduria
3 hydroxyisobutyric aciduria
3 hydroxyisovalerylcarnitine metabolic abnormality
3 ketothiolase deficiency
3 methylcrotonyl CoA carboxylase deficiency
3 methylcrotonyl Coenzyme A Carboxylase deficiency asymptomatic
3 methylcrotonylglycinuria
3 methylglutaconic aciduria impaired OXPHOS deafness encephalopathy dystonia & Leigh like syndrome
3 methylglutaconic aciduria progressive brain atrophy intellectual disability neutropaenia cataracts & movement disorder
3 methylglutaconic aciduria renal cysts nephrocalcinosis & cataracts
3 methylglutaconic aciduria severe neurological involvement and neutropaenia
3 methylglutaconic aciduria type 1
3 methylglutaconic aciduria type 4
3 methylglutaconic aciduria type IV cataracts neutropaenia & epilepsy
3 methylglutaconic aciduria type VII
3 methylglutaconic aciduria type VIII
3 oxo Delta(4) steroid 5beta reductase deficiency
3 oxoacid CoA transferase deficiency
3 phosphoglycerate dehydrogenase deficiency
3 phosphoserine phosphatase deficiency
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
3M syndrome 1
3MC syndrome
3MC syndrome 1
3MC syndrome 2
3MC syndrome 3
46 XX disorder of sex development
46 XY disorder of sex development
46 XY disorder of sex development & congenital heart defects
46 XY disorder of sex development modifier
46 XY disorder of sex development with bilateral gonadoblastoma
46 XY gonadal dysgenesis
46 XY gonadal dysgenesis complete
46 XY gonadal dysgenesis syndromic
46 XY partial gonadal dysgenesis
46 XY sex reversal & asplenia
46 XY testicular regression syndrome
46,XY disorder of sex development
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
46,XY sex reversal 1
46,XY sex reversal 3
46,XY sex reversal 4
46,XY sex reversal 5
46,XY sex reversal 6
46,XY sex reversal 7
46,XY sex reversal 9
4H leukodystrophy striatal variant
4H syndrome
5 oxoprolinase deficiency
5-Oxoprolinase deficiency
6 pyruvoyl tetrahydropterin synthase deficiency
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
8q24.3 deletion syndrome
8q24.3 microdeletion syndrome
9q subtelomeric deletion syndrome
A case of dysmorphic features small ventricular septal defect cleft lip hypertelorism of eye
A case of recurrent skin abscess and chest infection
A(H7N9) virus susceptibiity
AA amyloidosis
AA amyloidosis hepatitis B related
ABCA1-Related Disorders
ABCA3 deficiency
ABCA4 disease
ABCB11 deficiency
ABCB4 deficiency
ABeta amyloidosis, Arctic type
ABeta amyloidosis, Iowa type
ABeta amyloidosis, Italian type
ABeta amyloidosis, dutch type
ACC infantile spasms & abnormal genitalia
ACC mental retardation epilepsy & dyskinetic quadriparesis
ACOX2 deficiency
ACTH deficiency isolated
ACTH hypersensitivity syndrome
ACTH independent macronodular adrenocortical hyperplasia
ACTH-independent macronodular adrenal hyperplasia 2
ADA2 deficiency
ADA2 deficiency with neutropaenia
ADAMTS13 deficiency
ADAMTS13 deficiency & Upshaw Schulman syndrome
ADHD
ADHD Intellectual disability autism hypoplasia of cerebellar vermis Dandy Walker variant and EEG abnormalities
ADK deficiency
ADNP syndrome with/without premature primary tooth eruption
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADRENAL INSUFFICIENCY, NR5A1-RELATED
ADULT i BLOOD GROUP PHENOTYPE
ADULT syndrome
ADULT syndrome with cleft palate
AEC like syndrome with immune deficiency
AEC syndrome
AGC1 deficiency
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AICA Ribosiduria
AICA-ribosiduria
AIDS & pneumocystis pneumonia
AIDS progression protection
ALAD deficiency
ALDH18A1-related de Barsy syndrome
ALG1-CDG
ALG11-CDG
ALG12-congenital disorder of glycosylation
ALG2-CDG
ALG3-CDG
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
ALZAHRANI-KUWAHARA SYNDROME
ALys amyloidosis systemic
AMED syndrome, digenic
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
ANE syndrome
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
AORTIC ANEURYSM, FAMILIAL THORACIC 12
APECED
APLAID syndrome and cutis laxa
APOE5 VARIANT
APRT deficiency, Japanese type
ARMC9-related Joubert syndrome
ARS121 specific minichromosome retention
ARSenicosis reduced risk
ASHER
ATP synthase deficiency
ATP1A3 related disorder
ATP1A3-associated neurological disorder
ATP8B1 deficiency
ATRX syndrome
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
Aarskog Scott syndrome
Aarskog syndrome
Abdominal aortic aneurysm
Abdominal aortic aneurysm reduced risk
Abdominal obesity-metabolic syndrome 3
Aberrant lymphoid immunity
Abetalipoproteinaemia
Abetalipoproteinemia
Ablepharon macrostomia
Ablepharon macrostomia syndrome
Abnormal bleeding
Abnormal brainstem morphology
Abnormal cardiac left right patterning
Abnormal cellular localization
Abnormal central motor function
Abnormal cerebral white matter morphology
Abnormal circulating lipid concentration
Abnormal corpus callosum morphology
Abnormal cortical gyration
Abnormal dense granules
Abnormal facial shape
Abnormal functional variant
Abnormal glycosylation
Abnormal gyration multiple joint contractures
Abnormal heart morphology
Abnormal insulin secretion
Abnormal intracellular accumulation
Abnormal lung growth pulmonary hypertension microcephaly & spasticity
Abnormal muscle tone
Abnormal pigmentation
Abnormal platelet aggregation
Abnormal platelet function
Abnormal pulmonary interstitial morphology
Abnormal striatum congenital cataract & intellectual disability
Abnormal subcortical activity in congenital mirror movement disorder
Abnormal thrombosis
Abnormal thyroid hormone metabolism
Abnormal vitreoretinal vasculature
Abnormality of blood and blood-forming tissues
Abnormality of brain morphology
Abnormality of cardiovascular system morphology
Abnormality of coagulation
Abnormality of connective tissue
Abnormality of metabolism/homeostasis
Abnormality of nervous system
Abnormality of neuronal migration
Abnormality of the cardiovascular system
Abnormality of the connective tissue
Abnormality of the dentition
Abnormality of the ear
Abnormality of the endocrine system
Abnormality of the eye
Abnormality of the genitourinary system
Abnormality of the integument
Abnormality of the mitochondrion
Abnormality of the musculature
Abnormality of the musculoskeletal system
Abnormality of the nervous system
Abnormality of the outer ear
Abnormality of the peripheral nervous system
Abnormality of the respiratory system
Abnormality of the skeletal system
Abnormality of the skin
Abolished enzyme activity
Abolished ion transport activity
Abolition of tyrosine sulphation
Abortive cerebellar ataxia
Abrogated kinase activity
Abrogated signalling activity
Absence epilepsy early onset
Absence epilepsy early onset with intellectual disabiliity
Absence epilepsy with ataxia
Absence of collagen induced platelet activation
Absence seizures
Absent cochlear nerves
Absent enzyme activity
Absent thoracic duct lymphatic malformation bilateral pleural effusions ascites pulmonary hypoplasia and feeding refusal
Absent uvula
Absorptive hypercalciuria
Acampomelic campomelic dysplasia
Acanthocytosis
Acanthosis nigricans
Acatalasaemia
Accessory atrioventricular connection
Acephalic spermatozoa
Acephalic spermatozoa syndrome
Aceruloplasminaemia
Acetaldehyde dehydrogenase deficiency
Acetoacetyl CoA thiolase deficiency
Acetylcholine receptor deficiency
Achalasia
Achilles tendon pathology
Achondrogenesis
Achondrogenesis 1B
Achondrogenesis 2
Achondrogenesis II hypochondrogen./Mult. epiphyseal dysplasia myopia & deafness/Kniest dysplasia/Legg Calve Perthes disease
Achondrogenesis II hypochondrogenesis
Achondrogenesis type 1A
Achondrogenesis type II
Achondrogenesis, type IA
Achondrogenesis, type IB
Achondroplasia
Achondroplasia syndrome
Achondroplasia with craniosynostosis
Achondroplasia with severe Platyspondyly
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Achromatopsia 5
Achromatopsia 7
Achromatopsia autosomal recessive
Achromatopsia incomplete
Acid ceramidase deficiency polyarticular arthritis and spinal muscular atrophy
Acid labile subunit deficiency
Acid labile subunit deficiency partial
Acidosis
Acinar cell carcinoma of the pancreas
Acinar dysplasia
Acne inversa familial
Acne inversa, familial, 1
Acne inversa, familial, 2
Aconitase 2 deficiency
Acquired idiopathic sideroblastic anemia
Acquired long QT syndrome
Acquired long QT syndrome protection against association
Acquired partial lipodystrophy
Acral peeling skin syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocephalopolysyndactyly type II
Acrocephalosyndactyly type I
Acrodermatitis enteropathica
Acrodermatitis enteropathica phenotype modifier
Acrodysostosis
Acrodysostosis 1 with or without hormone resistance
Acrodysostosis 2
Acrodysostosis 2 with or without hormone resistance
Acrodysostosis like skeletal dysplasia cerebellar atrophy and ichthyosis
Acrodysostosis with hormone resistance
Acroerythrokeratoderma
Acrofacial dysostosis
Acrofacial dysostosis Cincinnati type
Acrogeria Gottron
Acrogeria syndrome
Acrokeratosis verruciformis
Acrokeratosis verruciformis of Hopf
Acromegaly
Acromegaly hyperparathyroidism & bilateral adrenal tumours
Acromegaly predisposition to
Acromelic frontonasal dysostosis
Acromesomelic chondrodysplasia Grebe type
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 3
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acromicric dysplasia with stiff skin syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Acroscyphodysplasia
Actin accumulation myopathy
Actin myopathy
Action myoclonus-renal failure syndrome
Activated PI3Kδ syndrome
Activated PI3Kδ syndrome type 2
Activated Protein C resistance
Acute Myeloid Leukemia
Acute aortic dissection
Acute encephalitis with refractory repetitive partial seizures
Acute encephalopathy
Acute encephalopathy infection induced 3
Acute encephalopathy with biphasic seizures & late reduced diffusion
Acute erythroleukemia, familial
Acute febrile neutrophilic dermatosis
Acute haemorrhagic leukoencephalitis
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Acute insulin response
Acute intermittent porphyria
Acute leukaemia
Acute liver failure
Acute liver failure & multisystemic features
Acute liver failure paediatric
Acute liver failure recurrent with skeletal abnormalities
Acute lung injury
Acute lung injury in major trauma
Acute lymphoblastic leukaemia
Acute lymphoblastic leukaemia & thrombocytopaenia
Acute lymphoblastic leukaemia T cell with severe chemosensitivity
Acute lymphoblastic leukaemia increased risk
Acute lymphoblastic leukaemia primary
Acute lymphoid leukemia
Acute megakaryoblastic leukemia
Acute megakaryoblastic leukemia in down syndrome
Acute myeloid leukaemia
Acute myeloid leukaemia predisposition
Acute myeloid leukaemia reduced risk
Acute myeloid leukaemia relapse increased risk
Acute myeloid leukaemia/myelodysplastic syndrome
Acute myeloid leukemia
Acute myocardial infarction
Acute myocarditis
Acute neurological failure and deafness
Acute pancreatitis
Acute pancreatitis hypertriglyceridaemic
Acute pyelonephritis
Acute rejection in kidney transplantation
Acute respiratory distress syndrome
Acyl Coenzyme dehydrogenase 9 deficiency
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adams Oliver syndrome
Adams Oliver syndrome type 2
Adams Oliver syndrome type 3
Adams Oliver syndrome type 4
Adams Oliver syndrome type 5
Adams Oliver syndrome type 6
Adams-Oliver syndrome
Adams-Oliver syndrome 2
Adams-Oliver syndrome 3
Adams-Oliver syndrome 4
Adams-Oliver syndrome 5
Adams-Oliver syndrome 6
Addison disease
Addison disease with autoimmune thyroiditis
Adducted thumb clubfoot syndrome
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma
Adenocarcinoma & renal neoplasm
Adenoid cystic carcinoma
Adenoma aldosterone producing
Adenoma of hypophisis
Adenomatous polyposis attenuated
Adenomatous polyposis coli
Adenomatous polyposis coli attenuated
Adenomatous polyposis coli mild
Adenosine deaminase deficiency
Adenosine deaminase deficiency / immunodeficiency severe combined
Adenosine kinase deficiency
Adenosine monophosphate deaminase deficiency
Adenylate kinase deficiency
Adenylosuccinate lyase deficiency
Adermatoglyphia
Adiponectin deficiency
Adiponectin levels
Adolescent alopeciam dentogingival abnormalitites and intellectual disability
Adolescent idiopathic scoliosis
Adrenal disease
Adrenal failure testicular rest tumour and precocious puberty
Adrenal failure without enzymatic defects
Adrenal hyperplasia
Adrenal hyperplasia macronodular ACTH independent
Adrenal hyperplasia non classical
Adrenal hypoplasia
Adrenal hypoplasia & hypogonadotrophic hypogonadism
Adrenal hypoplasia late onset
Adrenal hypoplasia with growth hormone deficiency
Adrenal insufficiency
Adrenal insufficiency & 46 XY complete sex reversal
Adrenal insufficiency & hypospadias
Adrenal insufficiency primary
Adrenocortical adenoma
Adrenocortical carcinoma
Adrenocortical carcinoma, pediatric
Adrenocortical hyperplasia
Adrenocortical insufficiency without ovarian defect
Adrenocortical tumor, somatic
Adrenocortical tumour predisposition to
Adrenocortical tumours
Adrenoleukodystrophy
Adrenoleukodystrophy X linked
Adrenoleukodystrophy with severe autonomic dysfunction
Adrenomyeloneuropathy
Adropin deficiency
Adult acute leukemia increased risk
Adult height
Adult hypophosphatasia
Adult myoclonic epilepsy familial
Adult polyglucosan body neuropathy
Adult vitelliform macular dystrophy
Adult vitelliform macular dystrophy mild
Adult-onset foveomacular vitelliform dystrophy
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Advanced germ cell tumors
Advanced sleep phase syndrome 1
Advanced sleep phase syndrome 2
Advanced sleep phase syndrome 3
Affective disorder
Affects MTH1 activity and stability
Affects protein stability
Afibrinogenaemia
Afibrinogenaemia / hypofibrinogenaemia
Agammaglobulinaemia
Agammaglobulinaemia & B cell lymphopaenia
Agammaglobulinaemia & failure of B cell development
Agammaglobulinaemia X linked
Agammaglobulinaemia autosomal recessive
Agammaglobulinaemia with absent B cells
Agammaglobulinemia
Agammaglobulinemia 6, autosomal recessive
Agammaglobulinemia 8, autosomal dominant
Agammaglobulinemia 9, autosomal recessive
Agammaglobulinemia/Immunodeficiency/SHORT syndrome
Aganglionic megacolon
Aganglionosis in Hirschsprung disease
Aganglionosis total colonic
Aganglionosis, total intestinal
Age at menarche
Age at menopause
Age related cataracts increased risk
Age related macular degeneration
Age related maculopathy
Age related phenotypes
Aged appearance & cardiac arrhythmias lethal X linked
Agenesis of corpus callosum
Agenesis of corpus callosum & neuronal heterotopia
Agenesis of corpus callosum & optic nerve hypoplasia
Agenesis of corpus callosum and cardiac defects
Agenesis of corpus callosum and interhemispheric cyst
Agenesis of corpus callosum and polymicrogyria
Agenesis of corpus callosum cerebellar hypoplasia and schizencephaly
Agenesis of corpus callosum hydrocephalus IUGR short lower extremities
Agenesis of corpus callosum hypoplasia of bulbus and pons blindness and protruding tongue
Agenesis of corpus callosum hypotonia epilepsy developmental delay microcephaly hypoplasia & autistic behaviour
Agenesis of corpus callosum subependymal heterotopia and lacking cryptophthalmos
Agenesis of corpus callosum with mirror movements
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Aggressive periodontitis
Agnathia otocephaly
Agnathia-otocephaly complex
Agyria
Agyria pachygyria
Aicardi Goutieres syndrome 1, autosomal dominant
Aicardi Goutières and Singleton Merten syndromes
Aicardi Goutières syndrome
Aicardi Goutières syndrome with spastic paraparesis
Aicardi syndrome
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Aicardi-Goutieres syndrome 8
Airway hyperreactivity in asthma
Akinesia joint contractures hypotonia skeletal abnormalities & brain/retinal haemorrhages
Al Awadi Raas Rothschild syndrome
Al Awadi Raas Rothschild syndrome with dental anomalies
Al Gazali syndrome
Al Raqad syndrome
Al-Gazali syndrome
Al-Raqad syndrome
Alacrima achalasia & mental retardation syndrome
Alacrima, achalasia, and intellectual disability syndrome
Alagille syndrome
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Alagille syndrome incomplete
Alagille syndrome with hepatic adenoma
Aland eye disease
Aland island eye disease & stationary night blindness
Alanine aminotransferase
Albinism
Albinism hypomorphic
Albinism nystagmus hypopigmentation and foveal hypoplasia
Albinism nystagmus occular hypopigmentation and foveal hypoplasia
Albinism ocular
Albinism oculocutaneous
Albinism oculocutaneous 1
Albinism oculocutaneous 1A
Albinism oculocutaneous 1B
Albinism oculocutaneous 3
Albinism oculocutaneous 4
Albinism oculocutaneous 4 with partial loss of pigmentation
Albinism oculocutaneous 6
Albinism oculocutaneous 7
Albinism oculocutaneous II
Albinism oculocutaneous non syndromic
Albinism partial
Albright hereditary osteodystrophy
Albright hereditary osteodystrophy with carpal tunnel syndrome
Albumin variant
Albuminuria
Alcohol and cocaine dependence
Alcohol dehydrogenase beta variant
Alcohol dehydrogenase gamma variant
Alcohol dependence
Alcohol dependence susceptibility to
Alcoholism increased risk
Aldolase A deficiency
Aldosterone synthase deficiency
Aldosterone synthase deficiency type 1
Aldosterone synthase deficiency type 2
Aldosterone-producing adenoma with seizures and neurological abnormalities
Aldosterone-producing adrenal cortex adenoma
Aldosteronism early onset
Aldosteronism primary
Aldosteronism primary early onset
Aldosteronism with bilateral adrenal hyperplasia
Alexander disease
Alexander disease adult onset
Alexander disease neonatal
Alexander disease with dystonia & retinopathy
Alexander disease with flaccid paraparesis
Alkaptonuria
Alkuraya Kučinskas syndrome
Alkuraya-Kucinskas syndrome
Alkyl DHAP synthase deficiency
Allan Herndon Dudley syndrome
Allan-Herndon-Dudley syndrome
Allergic disease
Allergic diseases
Allergic rhinitis and asthma
Allergic rhinitis reduced risk
Allergy self reported
Alloalbuminemia
Alloimmune thrombocytopaenia fetomaternal
Alloimmune thrombocytopaenia neonatal
Almost complete loss of function
Aloin and saccharin taste sensitivity association
Alopecia
Alopecia neurological defects and endocrinopathy syndrome
Alopecia non syndromic
Alopecia universalis
Alopecia universalis and limb deformities
Alopecia universalis congenita
Alopecia with intellectual disability
Alopecia with mental retardation
Alopecia with mild ectodermal dysplasia
Alopecia-intellectual disability syndrome 1
Alopecia-intellectual disability syndrome 4
Alpers Huttenlocher syndrome
Alpers like hepatocerebral syndrome
Alpers like syndrome
Alpers syndrome
Alpha 1 antitrypsin deficiency
Alpha 1 antitrypsin deficiency partial
Alpha AASA dehydrogenase deficiency
Alpha L iduronidase pseudodeficiency
Alpha Thalassaemia
Alpha aminoadipic & alpha ketoadipic aciduria
Alpha dystroglycanopathy
Alpha dystroglycanopathy with congenital mirror movements
Alpha methylacetoacetic aciduria
Alpha methylacyl CoA racemase deficiency
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-1-antitrypsin deficiency
Alpha-2-plasmin inhibitor deficiency
Alpha-N-acetylgalactosaminidase deficiency type 2
Alport disease
Alport syndrome
Alport syndrome & rheumatoid arthritis
Alport syndrome / thin basement membrane nephropathy
Alport syndrome autosomal dominant
Alport syndrome autosomal recessive
Alport syndrome modifier of
Alport syndrome with macrothrombocytopaenia
Alstrom syndrome
Alstrom syndrome modifier of
Altered (S) methadone metabolism
Altered 1 5 anhydroglucitol levels
Altered 2 methylmalonyl carnitine levels
Altered 5 hydroxylysine levels
Altered APOB levels
Altered FV1/FV2 ratio
Altered HDL cholesterol level in hypercholesterolaemia
Altered HDL cholesterol levels
Altered HLA reactivity and peptide permissiveness
Altered N acetylglucosamine binding
Altered N acetylornithine metabolism
Altered N linked glycosylation
Altered N methylpipecolate ratio
Altered NADPH binding affinity
Altered Rh antigen expression
Altered VWF antigen/FVIII coagulant activity
Altered X 22162 to X 24513 ratio
Altered X 24348 to pregn steroid monosulfate ratio
Altered absorption spectrum
Altered acetylcarnitine metabolism
Altered activity
Altered affinity
Altered affinity for atypical antipsychotic drugs
Altered androsterone sulphate levels
Altered antagonist binding
Altered antiviral signalling
Altered arsenic metabolism
Altered basal and/or induced transactivation
Altered basal and/or induced transactivation association
Altered beta carotene metabolism
Altered beta endorphin binding
Altered binding affinity
Altered carbohydrate metabolism
Altered catalytic activity
Altered channel function
Altered cis 3 hexen 1 ol detection
Altered cofactor function
Altered conformation
Altered dimethylglycine levels
Altered dopamine sulphate levels
Altered double strand break repair
Altered drug efficacy
Altered electrophysiological activity
Altered enzyme activity
Altered enzyme function
Altered ethylmalonate levels
Altered expression
Altered function
Altered gene expression
Altered glucocorticoid sensitivity
Altered glycogen and triglyceride levels in muscle
Altered homocysteine levels
Altered hypomethylation of subtelomeric loci
Altered interaction with Toll like receptors
Altered iron status
Altered level of single strand breaks
Altered localisation
Altered mechanical stability
Altered meiotic recombination hotspot usage
Altered mitochondrial dynamics
Altered monocyte receptor levels
Altered myosin contractile function
Altered orotate levels
Altered plasma factor VIII and VWF levels
Altered potency of atypical antipsychotic drugs
Altered processing by plasmin
Altered protein folding
Altered radiation exposure response relationship
Altered receptor binding
Altered receptor function
Altered receptor signalling
Altered reductase activity
Altered repressor activity
Altered response to CCL4
Altered response to CCL5
Altered response to DSB inducing agents
Altered ristocetin induced platelet aggregation
Altered ritodrine sulphation
Altered splicing
Altered splicing efficiency
Altered stability
Altered steroid production
Altered structure
Altered subcellular localization
Altered substrate selectivity
Altered substrate specificity
Altered substrate uptake
Altered sugar binding activity
Altered tamoxifen response
Altered targeting efficiency
Altered thyroxine levels
Altered trafficking and/or signalling
Altered transcriptional activity
Altered transmembrane signaling
Altered transport activity
Altered transporter function
Altered zinc transport activity
Alternate splicing
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood & dystonia parkinsonism rapid onset
Alternating hemiplegia of childhood 1
Alternating hemiplegia of childhood 2
Alternating hemiplegia of childhood late onset
Alternating hemiplegia of childhood with paralysis & choreoathetosis
Alternating hemiplegia of childhood with severe intellectual disability
Alveolar capillary dysplasia
Alveolar capillary dysplasia / misalignment of pulmonary veins
Alveolar capillary dysplasia with pulmonary venous misalignment
Alzheimer disease
Alzheimer disease 3
Alzheimer disease 4
Alzheimer disease ataxic variant
Alzheimer disease atypical
Alzheimer disease autosomal dominant
Alzheimer disease decreased risk
Alzheimer disease early onset
Alzheimer disease early onset & presenile dementia
Alzheimer disease early onset & spastic paraparesis
Alzheimer disease early onset assc. with prosopagnosia hoarding & parkinsonism
Alzheimer disease early onset autosomal dominant
Alzheimer disease early onset with cerebellar ataxia
Alzheimer disease early onset with parkinsonism
Alzheimer disease familial 3, with spastic paraparesis
Alzheimer disease in Han Chinese
Alzheimer disease increased risk
Alzheimer disease late onset
Alzheimer disease late onset reduced risk
Alzheimer disease modifier of
Alzheimer disease protection against
Alzheimer disease reduced risk
Alzheimer disease risk
Alzheimer disease sporadic late onset
Alzheimer disease type 1
Alzheimer disease with epilepsy and frontotemporal atrophy
Alzheimer disease with spasticity parkinsonism & white matter lesion
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
Alzheimer disease, familial, 3, with unusual plaques
Alzheimer disease, familial, with spastic paraparesis and unusual plaques
Alzheimer disease/frontotemporal dementia
Alzheimers disease
Ambiguous genitalia and psychomotor delay
Amegakaryocytic thrombocytopaenia congenital
Amelogenesis imperfecta
Amelogenesis imperfecta & gingival hyperplasia syndrome
Amelogenesis imperfecta & hypohidrosis
Amelogenesis imperfecta - hypoplastic autosomal dominant - local
Amelogenesis imperfecta autosomal dominant & dentin disorders
Amelogenesis imperfecta hypocalcified
Amelogenesis imperfecta hypomaturation type 2A2
Amelogenesis imperfecta hypomaturation type 2A4
Amelogenesis imperfecta hypomaturation type 2A5
Amelogenesis imperfecta hypoplastic
Amelogenesis imperfecta nonsyndromic
Amelogenesis imperfecta type 1E
Amelogenesis imperfecta type 1H
Amelogenesis imperfecta with taurodontism
Amelogenesis imperfecta, type 1J
Amelogenesis imperfecta, type 3c
Amenorrhoea primary
Aminoacyl tRNA synthetase related disease
Aminoacylase 1 deficiency
Aminoacylase I deficiency
Amish lethal microcephaly
Ampullary cancer
Amyloid polyneuropathy
Amyloidangiopathy
Amyloidogenic transthyretin amyloidosis
Amyloidosis
Amyloidosis Finnish type
Amyloidosis cardiac
Amyloidosis cardiac and cutaneous
Amyloidosis cardiac and systemic
Amyloidosis cardiac late onset
Amyloidosis cutis dyschromica
Amyloidosis meningocerebrovascular
Amyloidosis modifier of
Amyloidosis oculoleptomeningeal
Amyloidosis primary cutaneous
Amyloidosis renal
Amyloidosis systemic
Amyloidosis transthyretin
Amyloidosis vitreous
Amyloidosis with cardiomyopathy
Amyloidosis with renal insufficiency & cardiovascular protection
Amyloidosis, cardiac and cutaneous
Amyloidosis, primary localized cutaneous, 1
Amyloidosis, primary localized cutaneous, 2
Amyloidotic neurodegeneration
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis phenotype modifier
Amyotrophic lateral sclerosis & cognitive decline
Amyotrophic lateral sclerosis & dementia
Amyotrophic lateral sclerosis / frontotemporal dementia
Amyotrophic lateral sclerosis 1, autosomal recessive
Amyotrophic lateral sclerosis 22 with frontotemporal dementia
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
Amyotrophic lateral sclerosis 4 juvenile
Amyotrophic lateral sclerosis 6, autosomal recessive
Amyotrophic lateral sclerosis PMA variant
Amyotrophic lateral sclerosis and frontotemporal dementia
Amyotrophic lateral sclerosis and parkinson disease
Amyotrophic lateral sclerosis autosomal recessive
Amyotrophic lateral sclerosis familial
Amyotrophic lateral sclerosis increased risk
Amyotrophic lateral sclerosis juvenile
Amyotrophic lateral sclerosis juvenile onset
Amyotrophic lateral sclerosis late onset
Amyotrophic lateral sclerosis modifier of
Amyotrophic lateral sclerosis predisposition to
Amyotrophic lateral sclerosis reduced disease severity
Amyotrophic lateral sclerosis sporadic
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 12
Amyotrophic lateral sclerosis type 15
Amyotrophic lateral sclerosis type 16
Amyotrophic lateral sclerosis type 18
Amyotrophic lateral sclerosis type 19
Amyotrophic lateral sclerosis type 2, juvenile
Amyotrophic lateral sclerosis type 20
Amyotrophic lateral sclerosis type 21
Amyotrophic lateral sclerosis type 22
Amyotrophic lateral sclerosis type 23
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 9
Amyotrophic lateral sclerosis with aphasia
Amyotrophic lateral sclerosis/Frontotemporal dementia
Amyotrophic lateral sclerosis/parkinsonism dementia complex
Amyotrophic neuralgia
Amyotrophy infantile onset
Amyotrophy neuralgic
AnWj negative blood group
Anaemia
Anaemia & thrombocytopaenia
Anaemia and renal tubular acidosis
Anaemia and weakened immune system with intellectual & neuromuscular impairment
Anaemia dyserythropoietic congenital
Anaemia dyserythropoietic congenital type I
Anaemia dyserythropoietic congenital type II
Anaemia dyserythropoietic congenital type III
Anaemia erythropoietic congenital II
Anaemia hyperuricaemia and chronic kidney disease
Anaemia hypochromic microcytic
Anaemia hypoplastic
Anaemia hypouricosuric hyperuricaemia and kidney failure
Anaemia transfusion dependent
Anaemia with hypochromia & microcytosis
Anal atresia
Analbuminaemia
Anaplastic astrocytoma in Coffin Siris syndrome
Anaplastic large cell lymphoma
Anaplastic large cell lymphoma childhood
Anaplastic oligodendroglioma
Anauxetic dysplasia
Anauxetic dysplasia 2
Anauxetic dysplasia 3
Andersen Tawil syndrome
Andersen Tawil syndrome with reversible dilated cardiomyopathy
Andersen syndrome
Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry
Androgen excess
Androgen insensitivity syndrome
Androgen insensitivity syndrome & Leydig cell hyperplasia
Androgen insensitivity syndrome partial
Androgen insensitivity syndrome with polyorchidism
Androgen insensitivity, partial, with breast cancer
Androgen resistance syndrome
Anemia
Anemia and intellectual disability
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
Anemia, hereditary sideroblastic 1, pyridoxine refractory
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Anemia/Neutropenia/Pancytopenia IUGR Elevated transaminases Cardiomyopathy Failure to thrive Polyhydramnios
Anencephalus
Anencephaly
Anencephaly and spina bifida
Anencephaly aplasia/hypoplasia of the cerebellum ankle contracture abnormal heart morphology and polyhydramnios
Anencephaly autosomal recessive
Aneuploid egg production
Aneurysm & dyslipidaemia
Aneurysm of thoracic aorta
Aneurysm-osteoarthritis syndrome
Angelman syndrome
Angelman syndrome-like
Angioedema
Angioedema hereditary
Angioedema hereditary type 1
Angioedema hereditary with normal C1 inhibitor
Angioedema, hereditary, 6
Angioedema, hereditary, 7
Angioedema, hereditary, 8
Angioid streaks
Angioid streaks increased risk
Angioimmunoblastic T cell lymphoma
Angiolipoma
Angioneurotic oedema
Angioosteohypertrophic syndrome
Angiopathy nephropathy aneurysms & muscle cramps
Angiosarcoma
Angiotensin i-converting enzyme, benign serum increase
Anhaptoglobinaemia
Anhidrosis
Anhidrosis heat intolerance & kidney damage
Anhydramnios recurrent
Aniridia
Aniridia 1
Aniridia 3
Aniridia, atypical
Ankyloblepharon filiforme adnatum associated with hay well syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankylosing spondylitis
Ankylosing spondylitis reduced risk
Annular epidermolytic ichthyosis
Anoctaminopathy
Anogenital papular acantholytic dermatosis
Anomalies of testicular function/development
Anonychia
Anophthalmia
Anophthalmia & blepharophimosis
Anophthalmia & isolated growth hormone deficiency
Anophthalmia / microphthalmia
Anophthalmia / microphthalmia with developmental delay
Anophthalmia and microphthalmia
Anophthalmia and sclerocornea
Anophthalmia bilateral
Anophthalmia growth delays intellectual disability and autism
Anophthalmia oesophageal genital syndrome
Anophthalmia syndrome
Anophthalmia-microphthalmia syndrome
Anophthalmia/microphthalmia
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anorchia bilateral
Anorectal malformation
Anorectal malformation hypoplastic left ventricle & mild developmental delay
Anorectal malformations with recto perineal fistulas
Anorectal malformations with recto urethral fistulas
Anorexia nervosa
Anorexia nervosa/bulimia nervosa
Anosmia general congenital
Anosmia isolated congenital
Antenatal hyperechogenic kidneys
Antenatal/neonatal Bartter syndrome
Anterior creases of earlobe
Anterior segment defect with glaucoma
Anterior segment developmental anomaly
Anterior segment developmental anomaly & glaucoma
Anterior segment dysgenesis
Anterior segment dysgenesis & morning glory syndrome
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Anterior segment dysgenesis 6
Anterior segment dysgenesis 7
Anterior segment dysgenesis 8
Anthracycline induced cardiotoxicity
Anthrax toxin sensitivity
Anti PIT1 antibody syndrome
Anti acetylcholinesterase sensitivity
Antibody deficiency
Antibody deficiency and immune dysregulation syndrome
Antibody deficiency primary
Antibody deficiency with vascular manifestations
Antiplasmin alpha 2 deficiency
Antipsychotic treatment
Antithrombin deficiency
Antithrombin deficiency childhood onset
Antithrombin deficiency type I
Antithrombin deficiency type II
Antithrombin resistance
Antitrypsin M2 variant
Antley Bixler syndrome
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Anxiety
Aortic aneurysm
Aortic aneurysm early onset
Aortic aneurysm familial thoracic 4
Aortic aneurysm thoracic
Aortic aneurysm, familial thoracic 10
Aortic aneurysm, familial thoracic 11, susceptibility to
Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 6
Aortic aneurysm, familial thoracic 7
Aortic aneurysm, familial thoracic 8
Aortic aneurysm/dissection in osteogenesis imperfecta
Aortic dilation
Aortic dilation/dissection and arachnodactyly
Aortic dilation/dissection mitral valve prolapse and insufficiency and pectus deformity
Aortic disease
Aortic dissection
Aortic dissection Stanford type A
Aortic dissection Stanford type B
Aortic dissection acute
Aortic dissection and regurgitation
Aortic dissections
Aortic stenosis
Aortic valve calcification
Aortic valve disease
Aortic valve disease 1
Aortic valve disease 2
Aortic valve stenosis tricuspid calcific
Aortopathy
Apert syndrome
Aphasia progressive nonfluent
Aphasia progressive semantic
Apical left ventricular aneurysm
Aplasia cutis congenita
Aplasia cutis congenita Duane anomaly & hip dysplasia
Aplasia of lacrimal and salivary glands
Aplasia/hypoplasia of the fibula and ankle contracture
Aplastic anaemia
Aplastic anaemia & pulmonary fibrosis
Aplastic anaemia / myelodysplasia
Aplastic anaemia / myelodysplastic syndrome
Aplastic anaemia / myelodysplastic syndrome with dysmorphic nails and abnormal pigmentation
Aplastic anaemia / thrombocytopaenia
Aplastic anaemia and cirrhosis
Aplastic anemia
Aplastic anemias
ApoAI amyloidosis with liver and gonadal involvement
Apolipoprotein A-I deficiency
Apolipoprotein A1 deficiency
Apolipoprotein A4 variant
Apolipoprotein B deficiency
Apolipoprotein C1 variant
Apolipoprotein C2 deficiency
Apolipoprotein C3 deficiency
Apolipoprotein C3 variant
Apolipoprotein E deficiency
Apolipoprotein H deficiency
Apolipoprotein c-III deficiency
Apoptosis unable to induce
Apparent mineralocorticoid excess
Apparent mineralocorticoid excess, mild
Aquagenic palmar keratoderma
Arginase I deficiency
Arginase I deficiency with hyperammonaemia
Arginase deficiency
Argininaemia
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Argininosuccinate lyase deficiency variant
Argininosuccinic aciduria
Argyrophilic grain disease
Arhinia
Aromatase deficiency
Aromatic L amino acid decarboxylase deficiency
Arrested retinal development and nystagmus
Arrhinia with choanal atresia and microphthalmia syndrome
Arrhythmia
Arrhythmia & cardiomyopathy
Arrhythmia & myofibrillar myopathy late onset
Arrhythmia lidocaine induced
Arrhythmia syndrome
Arrhythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Arrhythmogenic left ventricular cardiomyopathy/dysplasia
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy asymptomatic
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia 10
Arrhythmogenic right ventricular dysplasia 11
Arrhythmogenic right ventricular dysplasia 13
Arrhythmogenic right ventricular dysplasia 2
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular dysplasia type 2
Arrhythmogenic right ventricular dysplasia, familial, 14
Arrhythmogenic right ventricular dysplasia/cardiomyopathy
Arterial & joint calcifications
Arterial & joint calcifications symptomatic
Arterial calcification of infancy
Arterial calcification, generalized, of infancy, 1
Arterial calcification, generalized, of infancy, 2
Arterial dissections and fibromuscular dysplasia
Arterial tortuosity syndrome
Arteriovenous malformation
Arthogryposis micrognathia pleural effusion and skin oedema
Arthritis early onset
Arthritis isolated
Arthritis juvenile
Arthrogryposis
Arthrogryposis & hypoplasia
Arthrogryposis distal
Arthrogryposis distal 2B & myosin myopathy
Arthrogryposis distal type 1
Arthrogryposis distal type 2A
Arthrogryposis distal type 2B
Arthrogryposis distal type 5
Arthrogryposis distal type 5D
Arthrogryposis hypotonia and developmental delay
Arthrogryposis lethal
Arthrogryposis micrognathia ventriculomegaly and polymicrogyria
Arthrogryposis multiplex & skeletal deformities
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita & bilateral perisylvian polymicrogyria
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Arthrogryposis multiplex congenita 2, neurogenic type
Arthrogryposis multiplex congenita 5
Arthrogryposis multiplex congenita 5D
Arthrogryposis multiplex congenita and intellectual disability
Arthrogryposis multiplex congenita brain abnormalities seizures & developmental delay
Arthrogryposis multiplex congenita neuropathic
Arthrogryposis multiplex congenita with axoglial defects
Arthrogryposis multiplex congenita with ophthalmplegia
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy
Arthrogryposis multiplex congenital
Arthrogryposis phenotypic modifier of
Arthrogryposis renal dysfunction and cholestasis
Arthrogryposis severe with developmental delay strabismus and tremor
Arthrogryposis with anterior horn cell disease
Arthrogryposis with developmental delay and intellectual disability
Arthrogryposis with pterygia
Arthrogryposis, Perthes disease, and upward gaze palsy
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 1B
Arthrogryposis, distal, type 2B2
Arthrogryposis, distal, type 2B3
Arthrogryposis, distal, type 2B4
Arthrogryposis, distal, with impaired proprioception and touch
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 2
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Arts syndrome
Arts syndrome (phosphoribosylpyrophosphate synthetase deficiency)
Arylsulfatase A pseudodeficiency
Arylsulfatase a pseudodeficiency, intermediate
Arylsulfatase a pseudodeficiency, severe
Arylsulphatase A pseudodeficiency association
Asparaginase sensitivity
Asparagine synthetase deficiency
Aspartate aminotransferase levels
Aspartylglucosaminuria
Aspartylglucosaminuria, finnish type
Asperger syndrome
Asperger syndrome & schizophrenia early onset
Asperger syndrome and associated epilepsy
Aspergillosis in stem cell transplant recipients
Asphyxiating thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Asphyxiating thoracic dystrophy 3
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Aspirin exacerbated respiratory disease
Asplenia
Asplenia isolated congenital
Asplenia syndrome
Astheno teratozoospermia and male infertility
Asthenospermia
Asthenoteratospermia
Asthenoteratospermia with severe mutiple morphological abnormalities of the sperm flagella
Asthenoteratozoospermia
Asthenozoospermia
Asthenozoospermia idiopathic increased risk
Asthenozoospermia non syndromic
Asthma
Asthma and allergic rhinitis
Asthma and atopy
Asthma aspirin intolerant
Asthma atopic
Asthma bronchial
Asthma decreased risk
Asthma increased risk
Asthma non allergic
Asthma protection against
Asthma reduced risk
Asthma risk
Asthma severe
Asthma severity in males
Astrocytoma
Asymmetric ataxia depression memory loss epilepsy and axonal neuropathy
Asymmetric septal hypertrophy
Asymptomatic proteinuria
At(a ) blood group variation
Ataxia
Ataxia & chorea
Ataxia & dystonia
Ataxia & hypogonadism
Ataxia & muscle weakness
Ataxia & myoclonic epilepsy
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Ataxia - oculomotor apraxia type 4
Ataxia - telangiectasia variant
Ataxia Dyskinesia Dystonia MRO leukodystrophy
Ataxia adult onset
Ataxia and muscle hypotonia
Ataxia and retinitis pigmentosa with isolated vitamin E deficiency
Ataxia and spastic paraparesis
Ataxia cerebellar hypoplasia
Ataxia childhood onset
Ataxia childhood onset & cardiomyopathy nonobstructive
Ataxia early onset
Ataxia early onset with ocular motor apraxia & hypoalbuminaemia
Ataxia epilepsy & cataract
Ataxia hypotonia developmental regression
Ataxia hypotonia speech delay developmental regression
Ataxia infantile onset with hearing loss
Ataxia late onset
Ataxia mental retardation and developmental delay
Ataxia mental retardation and dyskinesia
Ataxia motor and speech delay and intellectual disability
Ataxia muscle weakness
Ataxia myoclonus syndrome
Ataxia non progressive congenital
Ataxia nystagmus dysarthria hearing impairment and retinal degeneration
Ataxia ocular apraxia
Ataxia ocular apraxia 1
Ataxia ocular apraxia 2
Ataxia ocular apraxia 2 atypical
Ataxia pancytopaenia syndrome
Ataxia progressive childhood onset
Ataxia rapid onset
Ataxia seizures & late onset dementia
Ataxia seizures spasticity
Ataxia telangiectasia
Ataxia telangiectasia atypical
Ataxia telangiectasia atypical with T cell acute lymphoblastic leukaemia
Ataxia telangiectasia late onset variant
Ataxia telangiectasia like DNA repair disorder
Ataxia telangiectasia like disease
Ataxia telangiectasia mild
Ataxia telangiectasia variant
Ataxia tremor and dementia
Ataxia with cognitive impairment
Ataxia with myoclonus
Ataxia with neuropathy
Ataxia with oculomotor apraxia type 1
Ataxia with oculomotor apraxia type 4
Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency and retinitis pigmentosa
Ataxia without leukoencephalopathy
Ataxia, Friedreich-like, with isolated vitamin E deficiency
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia without immunodeficiency
Ataxia-telangiectasia-like disorder 1
Ataxia-telangiectasia-like disorder 2
Ataxia/Dystonia/Spasticity/Myotonia
Ataxic cerebral palsy Failure to thrive Fine/ gross motor delay speech delay intellectual/learning disability
Ataxic neuropathy
Ataxic neuropathy cachexia and deafness
Ataxic sensory neuropathy and hearing impairment
Ateleiotic dwarfism
Atelosteogenesis
Atelosteogenesis 2
Atelosteogenesis 2/diastrophic dysplasia
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Atherosclerosis
Atherosclerosis diabetes mellitus & steatosis hepatis
Atherosclerosis in males
Atherosclerosis premature
Atherosclerosis reduced risk
Atherothrombotic cerebral infarction
Atopic asthma
Atopic asthma reduced risk
Atopic dermatitis
Atopic dermatitis increased risk
Atopic dermatitis protection against
Atopic dermatitis reduced risk
Atopy
Atopy maternally inherited
Atopy reduced risk
Atopy with immune deficiency & neurocognitive impairment
Atopy, resistance to
Atorvastatin sensitivity
Atransferrinaemia
Atransferrinemia
Atrial and septal ventricular defects failure to thrive fine motor delay prematurity
Atrial and septal ventricular defects fine and gross motor delay speech delay hypertonia genu valgus
Atrial and ventricular arrhythmia
Atrial and ventricular septal defects
Atrial and ventricular septal defects Tetralogy of Fallot Mild pulmonary stenosis Growth retardation Hypertelorism of eye Dysmorphic features IUGR Polyhydramnios
Atrial and/or ventricular septal defect
Atrial conduction disease
Atrial fibrillation
Atrial fibrillation & slow ventricular rates
Atrial fibrillation and bradycardia
Atrial fibrillation and pulmonary artery aneurysms
Atrial fibrillation early onset
Atrial fibrillation familial
Atrial fibrillation increased susceptibility
Atrial fibrillation lone early onset
Atrial fibrillation nocturnal
Atrial fibrillation susceptibility to
Atrial fibrillation, familial, 11
Atrial fibrillation, familial, 13
Atrial fibrillation, familial, 14
Atrial fibrillation, familial, 15
Atrial fibrillation, familial, 16
Atrial fibrillation, familial, 17
Atrial fibrillation, familial, 3
Atrial fibrillation, familial, 7
Atrial fibrillation, somatic
Atrial septal defect
Atrial septal defect & dilated cardiomyopathy
Atrial septal defect 1
Atrial septal defect 2
Atrial septal defect 3
Atrial septal defect 4
Atrial septal defect 5
Atrial septal defect 6
Atrial septal defect 7
Atrial septal defect 8
Atrial septal defect Failure to thrive Microcephaly Gross motor delay Hypotonia Prematurity
Atrial septal defect Ventricular septal defect Gross motor delay Speech delay
Atrial septal defect and pulmonary valve stenosis
Atrial septal defect failure to thrive mtoor retardation brain atrophy
Atrial septal defect failure to thrive short stature facial dysmorphism hypopigmented skin abnormal skin laxity gastrointestinal reflux pneumonia pneumatocele recurrent fever
Atrial septal defect hypoplastic aortic arch and dysmorphic features
Atrial septal defect ostium secundum type
Atrial septal defect with extra cardiac anomalies
Atrial septal defect with pulmonary stenosis
Atrial septal defects & postaxial hexodactyly
Atrial septal defects patent foramen ovale & cardiac valve defec
Atrial standstill
Atrichia
Atrichia with papular lesions
Atrioventricular block
Atrioventricular block & heart failure
Atrioventricular canal defect
Atrioventricular canal defect common atrium and postaxial polydactyly
Atrioventricular canal defects
Atrioventricular canal defects & Neurodevelopmental disorder
Atrioventricular canal defects with extracardiac anomalies
Atrioventricular canal defects with extracardiac anomalies & Neurodevelopmental disorder
Atrioventricular conduction block
Atrioventricular septal defect
Atrioventricular septal defect 3
Atrioventricular septal defect 4
Atrioventricular septal defect Down syndrome associated
Atrioventricular septal defect heterotaxy and oculo auriculo vertebral spectrum
Atrioventricular septal defect in Down syndrome
Atrioventricular septal defect, somatic
Atrioventricular septum defect
Atrioventricular septum defect complete
Atrioventricular septum defect intermediate
Atrioventricular septum defect partial
Atrioventricular septum defect unbalanced
Atrioventricular septum defects
Atrophia bulborum hereditaria
Atrophoderma vermiculatum
Attention deficit disorder and distinctive facial gestalt
Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder persistent
Attenuated agonist mediated receptor down regulation and desensitization
Attenuated cardiomyocyte response to stimulation
Attenuated ligand activation
Attenuated phenotype in glaucoma
Atypical Gaucher disease due to saposin C deficiency
Atypical Rett syndrome
Atypical SCID/Omenn syndrome
Atypical coarctation of aorta
Atypical glycine encephalopathy
Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical neonatal progeria without progerin accumulation
Atypical phenotype of PTS deficiency
Atypical porphyrinogenic response to mercury
Atypical rett syndrome & intractable epilepsy
Atypical rolandic epilepsy absence epilepsy
Atypical rolandic epilepsy verbal dyspraxia
Atypical teratoid/rhabdoid tumours
Au Kline syndrome
Auditory neuropathy
Auditory neuropathy and optic atrophy
Auditory neuropathy retinitis pigmentosa and optic atrophy
Auditory neuropathy spectrum disorder
Auditory neuropathy, autosomal recessive, 1
Auditory neuropathy-optic atrophy syndrome
Auriculocondylar syndrome
Auriculocondylar syndrome 1
Auriculocondylar syndrome 2
Auriculocondylar syndrome 3
Austism spectrum disorder
Autism
Autism & epilepsy
Autism & intellectual disability
Autism & mental retardation
Autism / Angelman syndrome
Autism / Parkinson disease
Autism / epilepsy
Autism Spectrum Disorder
Autism and borderline short QT syndrome type 3
Autism and dyskinesia with facial myokymia
Autism and intellectual disability
Autism developmental delay and epilepsy
Autism epilepsy phenotype
Autism epilepsy phenotype with macrocephaly
Autism hyperactivity epilepsy sensory disturbance and spastic paraplegia
Autism increased risk
Autism intellectual disability & epilepsy
Autism intellectual disability developmental delay epilepsy and facial dysmorphism
Autism intellectual disability ptosis and recurrent vomiting
Autism obsessive compulsive disorder hypertelorism hypotonia and speech delay
Autism reduced risk
Autism seizures & intellectual disability
Autism spectrum disorder
Autism spectrum disorder & global developmental delay
Autism spectrum disorder & intellectual disability
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Autism spectrum disorder / intellectual disability
Autism spectrum disorder ADHD speech delay and epilepsy
Autism spectrum disorder and epilepsy
Autism spectrum disorder and macrocephaly
Autism spectrum disorder developmental delay and visual impairment
Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder epilepsy & arthrogryposis
Autism spectrum disorder generalized tonic clonic and focal seizures precocious puberty
Autism spectrum disorder increased risk
Autism spectrum disorder increased risk of
Autism spectrum disorder intellectual disability and precocious puberty
Autism spectrum disorder intellectual disability and seizures
Autism spectrum disorder intellectual disability seizures & developmental regression
Autism spectrum disorder intellectual disability seizures & dystonic movement disorder
Autism spectrum disorder modifier of
Autism spectrum disorder reduced risk
Autism spectrum disorder speech delay & seizures
Autism spectrum disorder susceptibility to
Autism spectrum disorder with Van Maldergem syndrome 2
Autism spectrum disorder with ectodermal dysplasia
Autism spectrum disorder with intellectual disability
Autism spectrum disorder with macrocephaly
Autism spectrum disorder with microcephaly
Autism spectrum disorder with skeletal abnormalities
Autism spectrum disorder with sleep disorders
Autism spectrum disorder/autistic traits
Autism spectrum disorder/intellectual disability and epilepsy
Autism spectrum disorders developmental delay and macrocephaly
Autism susceptibility to
Autism with epilepsy
Autism, susceptibility to, 17
Autism, susceptibility to, 18
Autism, susceptibility to, 5
Autism, susceptibility to, X-linked 1
Autism/schizophrenia
Autistic behavior
Autistic behaviour
Autistic disorder
Autistic spectrum disorder with isolated skills
Autoimmune Addison disease
Autoimmune disease
Autoimmune disease early onset & short stature
Autoimmune disease predisposition
Autoimmune disease resistance to association
Autoimmune enterocolitis
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autoimmune hemolytic anemia
Autoimmune hepatitis 2
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune lymphoproliferative like syndrome
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome II
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome like disease
Autoimmune lymphoproliferative syndrome type 1
Autoimmune lymphoproliferative syndrome type 1b
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome with autoimmune cytopaenias modifier
Autoimmune lymphoproliferative syndrome, type 1a
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Autoimmune manifestations early onset
Autoimmune mediated lung disease and arthritis
Autoimmune polyendocrinopathy syndrome type 1
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 1, autosomal dominant
Autoimmune thrombocytopenic purpura
Autoimmune thyroid disease
Autoimmunity
Autoimmunity and immune dysregulation
Autoimmunity and immunodeficiency
Autoimmunity and/or lymphoproliferation
Autoimmunity early onset
Autoimmunity hypogammaglobulinaemia lymphoproliferation & mycobacterial disease
Autoimmunity/lymphoproliferation and immunodeficiency
Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID)
Autoinflammation failure to thrive haemophagocytic lymphohistiocytosis and intestinal inflammation
Autoinflammation immunodeficiency amylopectinosis & lymphangiectasia
Autoinflammation with arthritis and dyskeratosis
Autoinflammation with episodic fever and lymphadenopathy
Autoinflammation with infantile enterocolitis
Autoinflammation with recurrent macrophage activation syndrome
Autoinflammation, immune dysregulation, and eosinophilia
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autoinflammatory disease
Autoinflammatory disease NLRP12 related
Autoinflammatory disease cold induced
Autoinflammatory disease including generalised cytokine increase
Autoinflammatory disease with corneal and mucosal dyskeratosis
Autoinflammatory disease with immunodeficiency
Autoinflammatory disorder
Autoinflammatory periodic fever immunodeficiency & thrombocytopenia
Autoinflammatory syndrome Behcet like
Autonomic control congenital failure of
Autosomal Recessive Hypotrichosis with Woolly Hair
Autosomal dominant Alport syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Opitz G/BBB syndrome
Autosomal dominant Parkinson disease 1
Autosomal dominant Parkinson disease 8
Autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 3
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant distal hereditary motor neuropathy
Autosomal dominant distal renal tubular acidosis
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant hypocalcemia 1
Autosomal dominant hypocalcemia 2
Autosomal dominant hypophosphatemic rickets
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant isolated somatotropin deficiency
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant lamellar ichthyosis
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant macrothrombocytopenia TUBB1-related
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy 1
Autosomal dominant nocturnal frontal lobe epilepsy 3
Autosomal dominant nocturnal frontal lobe epilepsy 4
Autosomal dominant nocturnal frontal lobe epilepsy 5
Autosomal dominant non syndromic hearing loss
Autosomal dominant nonsyndromic hearing loss
Autosomal dominant nonsyndromic hearing loss 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 12
Autosomal dominant nonsyndromic hearing loss 15
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant nonsyndromic hearing loss 20
Autosomal dominant nonsyndromic hearing loss 22
Autosomal dominant nonsyndromic hearing loss 23
Autosomal dominant nonsyndromic hearing loss 25
Autosomal dominant nonsyndromic hearing loss 2A
Autosomal dominant nonsyndromic hearing loss 36
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 40
Autosomal dominant nonsyndromic hearing loss 41
Autosomal dominant nonsyndromic hearing loss 4A
Autosomal dominant nonsyndromic hearing loss 4B
Autosomal dominant nonsyndromic hearing loss 5
Autosomal dominant nonsyndromic hearing loss 56
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant nonsyndromic hearing loss 64
Autosomal dominant nonsyndromic hearing loss 65
Autosomal dominant nonsyndromic hearing loss 68
Autosomal dominant nonsyndromic hearing loss 7
Autosomal dominant nonsyndromic hearing loss 70
Autosomal dominant nonsyndromic hearing loss 9
Autosomal dominant optic atrophy classic form
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic liver disease
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant sensory ataxia 1
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant tubulointerstitial kidney disease and diabetes (MODY)
Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant woolly hair
Autosomal recessive Alport syndrome
Autosomal recessive DOPA responsive dystonia
Autosomal recessive Parkinson disease 14
Autosomal recessive Robinow syndrome
Autosomal recessive agammaglobulinemia 1
Autosomal recessive amelia
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Autosomal recessive complex spastic paraplegia type 9B
Autosomal recessive congenital ichthyosis 1
Autosomal recessive congenital ichthyosis 10
Autosomal recessive congenital ichthyosis 11
Autosomal recessive congenital ichthyosis 2
Autosomal recessive congenital ichthyosis 3
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive congenital ichthyosis 5
Autosomal recessive congenital ichthyosis 6
Autosomal recessive congenital ichthyosis 9
Autosomal recessive cutis laxa type 2B
Autosomal recessive cutis laxa type 2C
Autosomal recessive cutis laxa type 2D
Autosomal recessive distal renal tubular acidosis
Autosomal recessive distal spinal muscular atrophy 1
Autosomal recessive early-onset Parkinson disease 23
Autosomal recessive early-onset Parkinson disease 6
Autosomal recessive early-onset Parkinson disease 7
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive juvenile Parkinson disease 2
Autosomal recessive keratitis-ichthyosis-deafness syndrome
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2R
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2W
Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive limb-girdle muscular dystrophy type 2Z
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 15
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 22
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 24
Autosomal recessive nonsyndromic hearing loss 25
Autosomal recessive nonsyndromic hearing loss 26
Autosomal recessive nonsyndromic hearing loss 28
Autosomal recessive nonsyndromic hearing loss 29
Autosomal recessive nonsyndromic hearing loss 3
Autosomal recessive nonsyndromic hearing loss 30
Autosomal recessive nonsyndromic hearing loss 32
Autosomal recessive nonsyndromic hearing loss 35
Autosomal recessive nonsyndromic hearing loss 37
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 48
Autosomal recessive nonsyndromic hearing loss 59
Autosomal recessive nonsyndromic hearing loss 6
Autosomal recessive nonsyndromic hearing loss 61
Autosomal recessive nonsyndromic hearing loss 63
Autosomal recessive nonsyndromic hearing loss 67
Autosomal recessive nonsyndromic hearing loss 68
Autosomal recessive nonsyndromic hearing loss 7
Autosomal recessive nonsyndromic hearing loss 70
Autosomal recessive nonsyndromic hearing loss 74
Autosomal recessive nonsyndromic hearing loss 77
Autosomal recessive nonsyndromic hearing loss 8
Autosomal recessive nonsyndromic hearing loss 84B
Autosomal recessive nonsyndromic hearing loss 86
Autosomal recessive nonsyndromic hearing loss 88
Autosomal recessive nonsyndromic hearing loss 89
Autosomal recessive nonsyndromic hearing loss 9
Autosomal recessive nonsyndromic hearing loss 93
Autosomal recessive nonsyndromic hearing loss 97
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
Autosomal recessive polycystic kidney disease
Autosomal recessive primary microcephaly
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive retinitis pigmentosa
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spinocerebellar ataxia 10
Autosomal recessive spinocerebellar ataxia 11
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 13
Autosomal recessive spinocerebellar ataxia 14
Autosomal recessive spinocerebellar ataxia 16
Autosomal recessive spinocerebellar ataxia 17
Autosomal recessive spinocerebellar ataxia 18
Autosomal recessive spinocerebellar ataxia 2
Autosomal recessive spinocerebellar ataxia 20
Autosomal recessive spinocerebellar ataxia 7
Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
Autosomal recessive woolly hair 1, with or without hypotrichosis
Avascular necrosis of femoral head, primary, 1
Avascular necrosis of the femur head
Avellino corneal dystrophy
Axenfeld Rieger anomaly
Axenfeld Rieger anomaly & congenital glaucoma
Axenfeld Rieger anomaly glaucoma & heart disease
Axenfeld Rieger syndrome
Axenfeld Rieger syndrome with cardiac anomalies
Axenfeld anomaly with glaucoma
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Axial hypotonia and dystonia
Axial hypotonia intellectual disability and autism
Axial myopathy late onset
Axial spondyloarthritis dysplasia
Axial spondylometaphyseal dysplasia
Axonal loss progressive
Axonal neuropathy
Axonal neuropathy and static encephalopathy
Axonal neuropathy early onset
Axonal neuropathy sensorimotor
Axonal neuropathy severe early onset
Axonal neuropathy spasticity and autism spectrum disorder
Axonal neuropathy with giant axons
Axonal neuropathy with neuromyotonia
Axonal polyneuropathy childhood onset
Axonal polyneuropathy late onset
Axonal sensorimotor peripheral neuropathy
Axonal sensorimotor polyneuropathy without hepatoencephalopathy
Ayme Gripp syndrome
Ayme-Gripp syndrome
Azoospermia
Azoospermia / oligozoospermia
Azoospermia by meiotic arrest
Azoospermia hypergonadotropic
Azoospermia non obstructive
Azoospermia non obstructive and premature ovarian insufficiency
Azoospermia non obstructive reduced risk
Azoospermia secretory
Azoospermia/premature ovarian insufficiency
B cell deficiency & alopecia
B cell immunodeficiency
B cell immunodeficiency periodic fever and developmental delay
B cell lymphocytosis
B cell lymphoproliferative syndrome
B-cell chronic lymphocytic leukemia
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
B3GALNT1 deficiency (P1K phenotype)
B3GALNT1 deficiency (P2K phenotype)
B4GALT7 spondylodysplastic Ehlers Danlos syndrome
BACH2 related immunodeficiency and autoimmunity
BAP1 tumour predisposition syndrome
BAP1-related tumor predisposition syndrome
BCAT2 deficiency
BCG infection
BCS1L mitopathies
BENTA disease
BLOOD GROUP--LUTHERAN INHIBITOR
BMP4 variant
BNAR syndrome
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
BOMBAY PHENOTYPE, DIGENIC
BRAT1 associated neurodegenerative disorder
BURATTI-HAREL SYNDROME
Bacterial infection
Bailey-Bloch congenital myopathy
Bainbridge Ropers like syndrome and primary IGF1 deficiency
Bainbridge Ropers syndrome
Balkan endemic nephropathy
Baller Gerold syndrome
Baller-Gerold syndrome
Bamforth-Lazarus syndrome
Band heterotopia of brain
Band like calcification simplified gyration & polymicrogyria
Bannayan Riley Ruvalcaba like syndrome
Bannayan Riley Ruvalcaba syndrome
Bannayan Zonana syndrome
Baraitser Winter cerebrofrontofacial syndrome
Baraitser Winter syndrome
Baraitser-Winter syndrome 1
Baraitser-winter syndrome 2
Barber Say syndrome
Barber-Say syndrome
Bardet Biedl like features
Bardet Biedl syndrome
Bardet Biedl syndrome antenatal
Bardet Biedl syndrome modifier of
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 1, modifier of
Bardet-Biedl syndrome 1/7, digenic
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 22
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bardet-biedl syndrome 1/2, digenic
Bardet-biedl syndrome 2/6, digenic
Bare lymphocyte syndrome
Bare lymphocyte syndrome complementation group A
Bare lymphocyte syndrome complementation group B
Bare lymphocyte syndrome, type II, complementation group B
Barrett esophagus/esophageal adenocarcinoma
Barrett neoplasia
Barrett oesophagus/oesophageal adenocarcinoma
Bart syndrome
Barth syndrome
Barth syndrome atypical
Barth syndrome with dilated cardiomyopathy
Bartsocas Papas syndrome
Bartsocas-Papas syndrome
Bartter Gitelman syndrome
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4B
Bartter disease type 4a
Bartter disease type 5
Bartter syndrome
Bartter syndrome 3
Bartter syndrome 4 digenic
Bartter syndrome antenatal
Bartter syndrome type I
Bartter syndrome type II
Bartter syndrome type IV
Bartter syndrome with hypocalcemia
Bartter syndrome with sensorineural deafness
Basal cell carcinoma
Basal cell carcinoma reduced risk
Basal cell carcinoma, somatic
Basal ganglia and cerebellar dysgenesis
Basal ganglia calcification
Basal ganglia calcification idiopathic
Basal ganglia calcification, idiopathic, 4
Basal ganglia calcification, idiopathic, 5
Basal ganglia calcification, idiopathic, 6
Basal ganglia calcification, idiopathic, 7, autosomal recessive
Basal ganglia calcification, idiopathic, 8, autosomal recessive
Basal ganglia degeneration and brain atrophy
Basal ganglia disease biotin responsive
Basal ganglia dysfunction in adult onset isolated segmental dystonia
Basel Vanagaite Smirin Yosef syndrome
Batten-Turner congenital myopathy
Beaded hair
Beare Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu Boycott Innes syndrome
Beck-Fahrner syndrome
Beckwith Wiedemann syndrome
Beckwith Wiedemann syndrome with genital anomalies
Beckwith-Wiedemann syndrome
Beemer Langer syndrome
Behavioral Learning disability Seizures
Behavioral abnormality
Behavioural abnormalities and language impairment
Behavioural changes seizures dementia
Behavioural problems intellectual disability developmental delay and dysmorphic features
Behavioural problems intellectual disability developmental delay hypotonia dysmorphic features & gastrointest. problems
Behcet disease
Behcet's disease
Behr syndrome early onset
Behçet disease
Behçet disease reduced risk
Behçet disease with recurrent epididymitis
Behçet like small vessel vasculitis and antibody deficiency
Behçet uveitis
Bending bilateral femur tibia and fibula fixed knee internal crossed flexion and fixed foot position
Benign Rolandic epilepsy
Benign breast disease
Benign breast tumours
Benign childhood epilepsy with centrotemporal spikes
Benign convulsions with mild gastroenteritis intellectual disability & developmental encephalopathy with epilepsy
Benign epilepsy with centrotemporal spikes
Benign familial hematuria
Benign familial infantile epilepsy
Benign familial infantile seizures with movement disorders
Benign fleck retina
Benign haematuria
Benign hereditary chorea
Benign neonatal seizures
Benign recurrent intrahepatic cholestasis type 2
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Bent bone dysplasia
Benzene toxicity, susceptibility to
Berardinelli Seip lipodystrophy
Bernard Soulier syndrome
Bernard-Soulier syndrome type C
Bernard-Soulier syndrome, type A1
Bernard-Soulier syndrome, type A2, autosomal dominant
Bernard-Soulier syndrome, type B
Beryllium disease chronic
Best disease
Best macular dystrophy
Best vitelliform macular dystrophy
Bestrophinopathy
Bestrophinopathy angle closure glaucoma hyperopia & cataracts
Bestrophinopathy autosomal recessive
Beta aminoisobutyric acid levels
Beta enolase deficiency
Beta hexosaminidase pseudodeficiency
Beta ketothiolase deficiency
Beta lactam antibiotic allergy
Beta thalassaemia
Beta thalassaemia modifier of
Beta thalassemia intermedia
Beta ureidopropionase deficiency
Beta-D-mannosidosis
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Beta-thalassemia-X-linked thrombocytopenia syndrome
Bethlem like myopathy
Bethlem myopathy
Bethlem myopathy 1
Bethlem myopathy 2
Bicornuate uterus
Bicuspid aortic valve
Bicuspid aortic valve & thoracic aortic aneurysm
Bicuspid aortic valve associated thoracic aortic aneurysm
Bicuspid aortic valve speech delay cleft lip/palate hearing loss and syndactyly
Bicuspid aortic valve thoracic aortic root & ascending aorta dilatation
Bicuspid aortic valve/thoracic aortic aneurysms
Bietti crystalline corneoretinal dystrophy
Bietti crystalline dystrophy
Bifid nose renal agenesis & anorectal malformations syndrome
Bifunctional peroxisomal enzyme deficiency
Bilateral Coats disease
Bilateral anophthalmia
Bilateral anophthalmia intellectual disability & rhizomelic skeletal dysplasia
Bilateral anterior pyramidal cataract with nystagmus
Bilateral breast cancer & radiation associated angiosarcoma (RAAS)
Bilateral colobomata
Bilateral colobomatous microphthalmia autosomal dominant
Bilateral enlarged cystic kidneys ductal plate malformations of the liver & abnormal lung lobulation
Bilateral enlarged cystic kidneys ductal plate malformations of the liver bicorn uterus & oligohydramnios sequence
Bilateral facial palsy hearing loss & strabismus
Bilateral frontoparietal polymicrogyria
Bilateral iris and retinal coloboma developmental delay/intellectual disability genitorenal anomalies dysmorphic facial features and musculoskeletal anomalies
Bilateral iris and retinal coloboma developmental delay/intellectual disability seizures genitorenal anomalies and dysmorphic facial features
Bilateral jerky nystagmus waddling gait/ ataxic febrile convulsions
Bilateral kidney / bladder agenesis & hypertrophic heart
Bilateral kidney agenesis & oligohydramnios sequence
Bilateral kidney agenesis genital hypoplasia hypoplasia of halluces & other features
Bilateral kidney hypoplasia with cystic dysplasia & mild oligohydramnios sequence
Bilateral lens dislocation and glaucoma
Bilateral macronodular adrenal hyperplasia
Bilateral microphthalmia
Bilateral microphthalmia anophthalmia or coloboma
Bilateral microphthalmia primary aphakia coloboma and iris hypoplasia
Bilateral microtia-deafness-cleft palate syndrome
Bilateral multicystic dysplastic kidney with anencephaly
Bilateral occipital pachygyria
Bilateral optic nerve anomalies
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral persistant fetal vasculature
Bilateral popliteal artery aneurysm in Marfan syndrome
Bilateral renal agenesis
Bilateral renal tumours
Bilateral retinal colobomata
Bilateral sensorineural hearing impairment
Bilateral striatal necrosis
Bile acid amidation defect
Bile acid conjugation defect 1
Bile acid malabsorption primary
Bile acid synthesis defect
Bile duct dilatation
Biliary atresia
Biliary atresia extrahepatic
Biliary atresia splenic malformation syndrome
Biliary lithiasis
Biliary tract cancer
Biliary, renal, neurologic, and skeletal syndrome
Binge eating in hereditary diffuse leukoencephalopathy with spheroids
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Biotinidase deficiency partial
Bipolar I disorder
Bipolar affective disorder
Bipolar disorder
Bipolar disorder and schizophrenia
Bipolar disorder early onset
Bipolar disorder increased risk
Bipolar disorder lithium responsive
Bipolar spectrum disorder
Birbeck granules deficiency
Birk Barel mental retardation dysmorphism syndrome
Birk-Barel syndrome
Birt Hogg Dubé syndrome
Bisalbuminaemia
Bisphosphoglycerate mutase deficiency
Bitter taste sensitivity
Bjornstad syndrome with mild mitochondrial complex III deficiency
Bladder Urothelial Carcinoma
Bladder cancer
Bladder cancer increased risk
Bladder cancer non muscle invasive
Bladder cancer reduced risk
Bladder cancer risk
Bladder cancer, transitional cell, somatic
Bladder disease non syndromic
Bladder exstrophy
Bladder exstrophy-epispadias-cloacal extrophy complex
Blastic plasmacytoid dendritic cell neoplasm
Blastoma pleuropulmonary
Blau arteritis
Blau syndrome
Bleeding associated platelet dysfunction
Bleeding diathesis
Bleeding disorder
Bleeding disorder platelet type macrothrombocytopenia
Bleeding disorder, platelet-type, 21
Bleeding disorder, platelet-type, 22
Bleeding disorder, platelet-type, 24
Bleeding tendency severe
Blepharocheilodontic syndrome
Blepharocheilodontic syndrome 1
Blepharophimosis
Blepharophimosis - intellectual disability syndrome
Blepharophimosis - intellectual disability syndrome, MKB type
Blepharophimosis - intellectual disability syndrome, SBBYS type
Blepharophimosis intellectual disability syndrome
Blepharophimosis ptosis intellectual disability syndrome
Blepharophimosis syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
Blepharophimosis/ptosis/epicanthus inversus syndrome
Blepharospasm
Blepharospasm benign essential
Blepharospasm oromandibular dystonia dystonic head tremor akinesia & postural instability
Blindness
Blood group Erik variant
Blood group variant In(Lu)
Blood group variation
Blood pressure
Blood pressure salt sensitivity
Blood pressure variation in response to potassium
Bloom like syndrome
Bloom syndrome
Blue color blindness
Blue cone monochromacy
Blue cone monochromatism
Body composition in African American women
Body mass index
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Bohring Opitz syndrome
Bohring-Opitz syndrome
Bone and soft tissue angiomatosis
Bone connective tissue liver immune system & retinal defects
Bone fragility
Bone fragility autosomal recessive
Bone fragility disorder
Bone fragility with contractures, arterial rupture, and deafness
Bone marrow failure
Bone marrow failure syndrome
Bone marrow failure syndrome 3
Bone marrow failure syndrome 4
Bone marrow failure/myelodysplastic syndrome
Bone mass
Bone mineral density
Bone mineral density quantitative trait locus 1
Bone osteosarcoma
Bone overgrowth
Bone spicule pigmentary clumping in fundus & peripheral field constriction
Bone undermineralisation and skeletal dysplasia
Boomerang dysplasia
Borderline HbA2 level
Borjeson Forssman Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome
Borrelia seropositivity
Bosch Boonstra Schaaf optic atrophy syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bosma arhinia microphthalmia syndrome
Bothnia dystrophy
Bothnia retinal dystrophy
Boucher Neuhäuser syndrome
Boucher Neuhäuser syndrome with late onset ataxia
Boudin-Mortier syndrome
Bowed and short long bones
Bowen Conradi syndrome
Bowen-Conradi syndrome
Brachial amyotrophic diplegia
Brachicephaly
Brachycephaly, trichomegaly, and developmental delay
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1C
Brachydactyly type A1D
Brachydactyly type A2
Brachydactyly type B
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type E
Brachydactyly type E & short stature
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly type E2 and obesity
Brachydactyly-arterial hypertension syndrome
Brachydactyly-syndactyly-oligodactyly syndrome
Brachydactyly/oligodactyly
Brachyolmia
Brachyolmia autosomal dominant
Brachyrachia (short spine dysplasia)
Brachytelephalangic chondrodysplasia punctata
Brachytelephalangy
Bradyarrhythmias
Bradyarrhythmic disorder
Bradycardia
Bradycardia & left ventricular noncompaction cardiomyopathy
Bradycardia in Catecholaminergic polymorphic ventricular tachycardi
Bradycardia in Catecholaminergic polymorphic ventricular tachycardia
Bradycardia in long QT syndrome
Bradycardia left bundle branch block & left ventricular noncompaction
Bradycardia postpartum
Bradyopsia
Brain Lower Grade Glioma
Brain abnormalities
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Brain arteriovenous malformation
Brain atrophy
Brain atrophy epileptic encephalopathy
Brain atrophy in multiple sclerosis
Brain atrophy white matter disease & ataxia
Brain calcification
Brain calcifications
Brain hypometabolism & neurodegeneration
Brain malformations
Brain malformations anophthalmia hepatomegaly bile duct atresia & Müllerian duct agenesis
Brain malformations severe
Brain monoamine vesicular transport disease
Brain overgrowth with ribbon like heterotopia
Brain small vessel disease 1 with or without ocular anomalies
Brain small vessel disease 3
Brain small vessel disease with hemorrhage
Brain small vessel disease with leukoencelopathy & ocular anomalies
Brain stem degeneration
Brain thyroid lung syndrome
Brain-lung-thyroid syndrome
Brainstem glioma
Branched chain organic acidurias
Branched-chain keto acid dehydrogenase kinase deficiency
Branchio oculo facial syndrome
Branchio otic renal syndrome
Branchio otic syndrome
Branchio oto renal syndrome
Branchiooculofacial syndrome
Branchiootic syndrome 3
Branchiootorenal syndrome 1
Branchiootorenal syndrome 2
Breast adenocarcinoma
Breast and colon cancer
Breast and colorectal cancer
Breast and haematologic cancer
Breast and ovarian cancer syndrome
Breast and/or gynecological cancer
Breast and/or ovarian cancer
Breast and/or ovarian cancer increased risk
Breast and/or ovarian cancer susceptibility to
Breast and/or ovarian cancer with pancreatic cancer
Breast and/or pancreatic cancer
Breast cancer
Breast cancer ER negative
Breast cancer bilateral
Breast cancer contralateral reduced risk
Breast cancer decreased risk
Breast cancer early onset
Breast cancer elevated risk
Breast cancer female
Breast cancer high risk
Breast cancer in radiographers decreased risk
Breast cancer in women
Breast cancer increased risk
Breast cancer increased risk in African American women
Breast cancer invasive
Breast cancer lobular
Breast cancer male
Breast cancer non BRCA1/BRCA2 related
Breast cancer oestrogen dependence
Breast cancer overall survival
Breast cancer predisposition
Breast cancer predisposition to
Breast cancer premenopausal
Breast cancer progression
Breast cancer protection against
Breast cancer reduced risk
Breast cancer resistance protein deficiency
Breast cancer risk
Breast cancer risk in radiographers
Breast cancer survival
Breast cancer susceptibility to
Breast cancer triple negative
Breast carcinoma non small cell lung cancer and prostate cancer
Breast invasive carcinoma
Breast neoplasm
Breast or lung cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Breast/ovarian/colorectal cancer
Breathing dysregulation
Brittle cornea syndrome
Brittle cornea syndrome 1
Brittle cornea syndrome 2
Brody myopathy
Brody myopathy with malignant hypothermia susceptibility
Brody syndrome
Bronchial asthma
Bronchiectasis
Bronchiectasis diffuse ideopathic
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with pulmonary infection
Bronchitis
Bronchopulmonary dysplasia in premature newborns association
Bronchopulmonary dysplasia in preterm newborns
Bronchopulmonary dysplasia severe
Brooke Spiegler syndrome
Brooke-Spiegler syndrome
Brown Vialetto Van Laere / Fazio Londe syndrome
Brown Vialetto Van Laere syndrome
Brown Vialetto Van Laere syndrome 2
Brown-Vialetto-van Laere syndrome 1
Brown-Vialetto-van Laere syndrome 2
Bruck syndrome
Bruck syndrome 1
Bruck syndrome 2
Brugada 1 syndrome
Brugada like ST elevation
Brugada syndrome
Brugada syndrome (shorter than normal QT interval)
Brugada syndrome 1
Brugada syndrome 3
Brugada syndrome 4
Brugada syndrome 8
Brugada syndrome atypical
Brugada syndrome drug induced
Brugada syndrome increased risk
Brugada syndrome lidocaine induced
Brugada syndrome phenotype modifier
Brunner syndrome
Bryant-Li-Bhoj neurodevelopmental syndrome 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2
Budd Chiari syndrome
Bullous dermolysis of the newborn
Bullous erythroderma ichthyosiformis congenita
Bullous ichthyosiform erythroderma
Bullous lesions
Bulls eye maculopathy with peripheral hypopigmentation
Burkitt lymphoma
Buschke Ollendorff syndrome
Butterfly dystrophy
Butyrylcholinesterase deficiency
Butyrylcholinesterase variant
C syndrome
C1Q deficiency
C1Q deficiency type A
C1Q deficiency type C
C2 deficiency, type II
C3 glomerulonephritis
C3 glomerulonephritis & thrombotic microangiopathy
C3 glomerulopathy
C3 glomerulopathy & autoinflammatory disease
CAD deficiency
CADASIL
CADASIL with cysteine replacement
CADASIL with haemorrhagic strokes
CADASIL with intracerebral haemorrhage
CAGSSS
CAGSSS/Leigh syndrome/West syndrome
CALFAN syndrome
CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
CAMOS
CANDLE syndrome
CAPOS syndrome
CARASAL
CARASIL
CARASIL syndrome
CARASIL without alopecia
CARD9 deficiency
CASQ aggregate myopathy
CBL-related disorder
CC2D2A-Related Disorders
CCDC115-CDG
CCS deficiency
CD137 deficiency
CD1A deficiency
CD25 deficiency
CD27 deficiency
CD36 deficiency
CD4 lymphopaenia idiopathic
CD4+ T lymphopaenia
CD40 deficiency
CD40L deficiency
CD44 variant
CD55 deficiency protein losing enteropathy & thrombosis
CD59 deficiency
CD8 deficiency
CDK13 syndrome
CDKL5 deficiency disorder
CDKL5 disorder
CDKL5 disorder without epilepsy
CEBALID syndrome
CEDNIK syndrome
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
CEfotaxime renal clearance
CF associated liver disease
CFEOM1 & Marcus Gunn jaw winking syndrome
CFTR related disorder
CHAND syndrome
CHARGE association
CHARGE like syndrome
CHARGE syndrome
CHARGE syndrome predisposition to
CHILD syndrome
CHOPRA-AMIEL-GORDON SYNDROME
CK abnormalities muscle weakness hypotonia
CK syndrome
CLAPO syndrome
CLCN4-related disorder
CLN8 disease
CLOVES syndrome
CLPB deficiency severe
CMV infection
COACH syndrome
COACH syndrome 1
COACH syndrome 3
CODAS syndrome
COG4-CDG
COG5-CDG
COG6-CGD
COG7 congenital disorder of glycosylation
COL4A4 related kidney disease
COPA syndrome
COVID 19 susceptibility to
COX4I1 deficiency
CRB2 related syndrome modifier of
CTLA4 haploinsufficiency
CYP3A4 variant
CYP3A5 variant
Cacer
Cafe au lait macules
Cafe au lait macules with non issifying fibromas and/or giant cell lesions
Cafe au lait spots & Noonan synrome like facial features
Caffey disease
Caffey like disease modifier of
Calcified aortic valve with ascending aortic aneurysm
Calcium nephrolithiasis with renal phosphate leak
Calcium phosphate disease
Calpainopathy
Campomelic dysplasia
Campomelic dysplasia with autosomal sex reversal
Campomelic dysplasia with small patella syndrome
Camptodactyly absent carpal bones and hemangioma
Camptodactyly fifth finger
Camptodactyly tall stature and hearing loss syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptomelic dysplasia
Canale Smith syndrome
Canavan Disease, Familial Form
Canavan disease
Cancer
Cancer accelerated progression
Cancer hereditary
Cancer increased risk
Cancer predisposition syndrome
Cancer predisposition to
Cancer risk
Cancer susceptibility
Candida endophthalmitis adult onset
Candidiasis, familial, 8
Cant√∫ syndrome
Cant√∫ syndrome with pituitary adenoma
Cap disease
Cap myopathy
Cap myopathy 2
Cap myopathy autosomal dominant
Capecitabine sensitivity
Capillary infantile hemangioma
Capillary malformation arteriovenous malformation
Capillary malformation-arteriovenous malformation 1
Capillary malformation-arteriovenous malformation 2
Capillary malformations
Carbamoyl phosphate synthetase I deficiency
Carbohydrate sulfotransferase 3 deficiency
Carbonic anhydrase I deficiency
Carbonic anhydrase I, Guam
Carbonic anhydrase VA deficiency
Carbonic anhydrase deficiency
Carboxylesterase 1 deficiency
Carboxypeptidase N deficiency
Carboxypeptidase deficiency
Carcinoma
Carcinoma of colon
Carcinoma of esophagus
Carcinoma of pancreas
Cardiac & septal hypertrophy
Cardiac & skeletal dysplasia
Cardiac abnormalities
Cardiac angiosarcoma
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac arrest
Cardiac arrest in infancy
Cardiac arrhythmia
Cardiac arrhythmia increased risk association
Cardiac arrhythmia with muscular dystrophy limb girdle
Cardiac arrhythmias
Cardiac atrioventricular septal defect
Cardiac calcification
Cardiac conduction block
Cardiac conduction defect, nonprogressive
Cardiac conduction defect, nonspecific
Cardiac conduction defects
Cardiac conduction disease
Cardiac conduction disease and long QT syndrome
Cardiac conduction disease isolated
Cardiac conduction disorder
Cardiac conduction disorder & epilepsy
Cardiac defects
Cardiac defects palate abnormalities developmental delay/intellectual disability and dysmorphic features
Cardiac defects skeletal abnormalities facial dysmorphia developmental delay and endocrine system disorders
Cardiac disease
Cardiac disease susceptibility to association
Cardiac dysrhythmia
Cardiac glycogenosis
Cardiac hypertrophy
Cardiac hypertrophy protection association
Cardiac laterality defects
Cardiac malformation
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Cardiac malformations
Cardiac neonatal lupus increased risk
Cardiac paraganglioma
Cardiac septal defects
Cardiac sinus node dysfunction
Cardiac truncus arteriosus
Cardiac valvular defect, developmental
Cardiac valvular dysplasia
Cardiac valvular dysplasia, X-linked
Cardiac valvular dystrophy
Cardiac valvulopathy keloid scarring and reduced joint mobility
Cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
Cardio facio cutaneous syndrome
Cardio facio cutaneous syndrome / Noonan syndrome
Cardio facio cutaneous syndrome and craniosynostosis
Cardio respiratory failure
Cardio-facio-cutaneous syndrome
Cardioacrofacial dysplasia 1
Cardioacrofacial dysplasia 2
Cardiocutaneous progeria with Werner syndrome features
Cardioencephalomyopathy fatal infantile
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Cardiofaciocutaneous syndrome 1
Cardiofaciocutaneous syndrome 2
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 4
Cardiomegaly and hepatomegaly
Cardiomegaly pericardial effusion thick nuchal fold oligohydramnios hydronephrosis small bladder
Cardiomyopathy
Cardiomyopathy & distal myopathy
Cardiomyopathy & late onset polyneuropathy of lower limbs
Cardiomyopathy & sudden cardiac death
Cardiomyopathy X linked infantile
Cardiomyopathy and atrial fibrillation
Cardiomyopathy and nephrotic syndrome
Cardiomyopathy arrhythmogenic
Cardiomyopathy arrhythmogenic left dominant
Cardiomyopathy arrhythmogenic left ventricular
Cardiomyopathy arrhythmogenic right ventricular
Cardiomyopathy autosomal dominant
Cardiomyopathy autosomal dominant with left ventricular noncompaction features
Cardiomyopathy childhood onset
Cardiomyopathy dilated
Cardiomyopathy dilated & cardiac conduction disease
Cardiomyopathy dilated & endocardial fibroelastosis
Cardiomyopathy dilated & skeletal myopathy
Cardiomyopathy dilated / hypertrophic
Cardiomyopathy dilated adult onset
Cardiomyopathy dilated and heart failure
Cardiomyopathy dilated drug refractory
Cardiomyopathy dilated early onset
Cardiomyopathy dilated increased risk
Cardiomyopathy dilated modifier of
Cardiomyopathy dilated non compaction
Cardiomyopathy dilated paediatric
Cardiomyopathy dilated reduced risk
Cardiomyopathy dilated type 1A
Cardiomyopathy dilated with conduction defect type 1A
Cardiomyopathy dilated with left ventricular noncompaction
Cardiomyopathy dilated with septo optic dysplasia
Cardiomyopathy dilated with ventricular tachycardia
Cardiomyopathy dilated/Myocarditis acute
Cardiomyopathy hypertrophic
Cardiomyopathy hypertrophic & arrhythmia
Cardiomyopathy hypertrophic and complex IV deficiency
Cardiomyopathy hypertrophic modifer of
Cardiomyopathy hypertrophic modifier of
Cardiomyopathy hypertrophic with deafness
Cardiomyopathy hypertrophic with psychomotor delay and myopathy
Cardiomyopathy hypertrophic/dilated
Cardiomyopathy hypertrophic/dilated with left ventricular noncompaction
Cardiomyopathy hypertropic
Cardiomyopathy left ventricular noncompaction
Cardiomyopathy left ventricular noncompaction with heart block
Cardiomyopathy mitochondrial and sudden cardiac death
Cardiomyopathy multifocal ventricular ectopy associated
Cardiomyopathy neonatal dilated
Cardiomyopathy non compaction
Cardiomyopathy non compaction left ventricular
Cardiomyopathy optic neuropathy & cognitive disability
Cardiomyopathy paediatric
Cardiomyopathy peripartum/dilated
Cardiomyopathy restrictive
Cardiomyopathy restrictive with atrioventricular block
Cardiomyopathy right ventricular
Cardiomyopathy right ventricular & Charcot Marie Tooth disease type 2B1
Cardiomyopathy right ventricular and premature aging
Cardiomyopathy tako tsubo
Cardiomyopathy tako tsubo increased risk
Cardiomyopathy with advanced AV block
Cardiomyopathy with alopecia & palmoplantar keratoderma
Cardiomyopathy with early repolarisation & short QT syndrome
Cardiomyopathy, dilated, 2D
Cardiomyopathy, dilated, 2c
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Cardiomyopathy, familial hypertrophic, 28
Cardiomyopathy, familial restrictive, 1
Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, familial restrictive, 5
Cardiomyopathy, familial restrictive, 6
Cardiomyopathy, infantile hypertrophic
Cardiomyopathy, left ventricular noncompaction
Cardiomyopathy, mitochondrial
Cardiomyopathy/Myopathy/Muscular dystrophy
Cardiomyopathy/Skeletal myopathy
Cardiomyopathy/renal disease
Cardiospondylocarpofacial syndrome
Cardiovascular
Cardiovascular autonomic & brain anomalies
Cardiovascular defects
Cardiovascular disease
Cardiovascular disease accelerated course association
Cardiovascular malformation congenital
Cardiovascular malformations
Cardiovascular phenotype
Carey Fineman Ziter syndrome
Carney Stratakis syndrome
Carney complex
Carney complex, type 1
Carney triad
Carnitine acylcarnitine translocase deficiency
Carnitine deficiency primary
Carnitine deficiency systemic primary
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyltransferase 1 deficiency
Carnitine palmitoyltransferase 1 deficiency atypical
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase 2 deficiency partial
Carnitine palmitoyltransferase II deficiency
Caroli disease
Caroli disease / von Meyenburg complex
Caroli disease with polycystic kidney disease
Carotid intima media thickness
Carotid intima media thicknesses in HIV
Carotid intimal medial thickness 1
Carotid plaque
Carotid stenosis
Carpal osteolysis
Carpal tunnel syndrome
Carpal tunnel syndrome 2
Carpal tunnel syndrome, familial
Carpenter Waziri syndrome
Carpenter syndrome
Carvajal syndrome
Carvajal/Naxos syndrome
Carvajal/Naxos syndrome with leukonychia and oligodontia
CasK related disorder
Caspase 8 deficiency
Castleman disease
Castleman-Kojima disease
Cataract
Cataract & glaucoma
Cataract & microphthalmia
Cataract & neonatal mitochondrial encephalo cardiomyopathy
Cataract 1
Cataract 1 multiple types
Cataract 10 multiple types
Cataract 11 multiple types
Cataract 12
Cataract 12 multiple types
Cataract 13 with adult I phenotype
Cataract 14
Cataract 14 multiple types
Cataract 15 multiple types
Cataract 16 multiple types
Cataract 17 multiple types
Cataract 18
Cataract 19 multiple types
Cataract 2, Coppock-like
Cataract 2, multiple types
Cataract 20 multiple types
Cataract 21 multiple types
Cataract 22
Cataract 22 multiple types
Cataract 23
Cataract 3
Cataract 3 multiple types
Cataract 30
Cataract 31 multiple types
Cataract 33
Cataract 34 multiple types
Cataract 36
Cataract 4 multiple types
Cataract 41
Cataract 42
Cataract 43
Cataract 44
Cataract 46 juvenile-onset
Cataract 5
Cataract 5 multiple types
Cataract 6
Cataract 6 multiple types
Cataract 9 multiple types
Cataract Hutterite type & sudden cardiac death
Cataract aculeiform
Cataract age related
Cataract age related increased risk
Cataract and microcornea
Cataract autosomal dominant
Cataract autosomal recessive
Cataract autosomal recessive juvenile
Cataract bilateral congenital
Cataract bilateral congenital posterior subcapsular
Cataract central nuclear
Cataract congenital
Cataract congenital & microcornea
Cataract congenital autosomal dominant
Cataract congenital nuclear
Cataract coppock like
Cataract coralliform
Cataract deafness intellectual disability seizures & Down syndrome like facies
Cataract full moon with Y sutural opacities
Cataract juvenile
Cataract juvenile autosomal dominant
Cataract lamellar
Cataract lamellar pulverulent
Cataract marner
Cataract microcornea and/or iris coloboma
Cataract microcornea syndrome
Cataract microcornea with corneal opacity
Cataract nuclear
Cataract nuclear pulverulent & posterior polar
Cataract ocular anterior dysgenesis and coloboma
Cataract paediatric
Cataract pediatric
Cataract perinuclear
Cataract polymorphic and lamellar
Cataract posterior polar
Cataract progressive cortical punctate
Cataract progressive juvenile onset
Cataract progressive membranous
Cataract pulverulent sutural
Cataract recessive paediatric
Cataract secondary glaucoma
Cataract syndromic
Cataract total white
Cataract with nystagmus
Cataract with protein crystallisation
Cataract zonular nuclear pulverulent
Cataract zonular pulverulent
Cataract zonular punctate
Cataract, autosomal dominant, multiple types, with microcornea
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cataracts
Cataracts & porencephaly
Catatonic schizophrenia
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 3
Catecholaminergic polymorphic ventricular tachycardia 4
Catecholaminergic polymorphic ventricular tachycardia 5
Catel Manzke like syndrome
Catel Manzke syndrome
Catel Manzke syndrome without Manzke dysostosis
Catel-Manzke syndrome
Cathepsin D deficiency
Catifa syndrome
Caused by mutation in the TBC1 domain family, member 24
Caveolinopathy
Cenani Lenz syndrome
Cenani-Lenz syndactyly syndrome
Central areolar choroidal dystrophy
Central centrifugal cicatricial alopecia
Central core disease
Central core disease, autosomal recessive
Central core myopathy
Central discoid corneal dystrophy
Central hypothyroidism
Central hypothyroidism & hearing loss
Central hypothyroidism & testicular enlargement
Central hypoventilation syndrome
Central hypoventilation syndrome & variant Hirschsprung disease
Central hypoventilation syndrome and congenital heart disease
Central nervous system abnormality
Central nervous system dysfunction
Central precocious puberty
Central precocious puberty idiopathic
Central scotoma
Central serous chorioretinopathy chronic in females
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Centronuclear myopathy
Centronuclear myopathy early onset
Centronuclear myopathy late onset
Centronuclear myopathy neonatal onset
Centronuclear myopathy with cataracts
Centronuclear myopathy with dilated cardiomyopathy
Centronuclear myopathy with rigid spine
Centrotemporal spikes
Cerebellar ataxia
Cerebellar ataxia & limb spasticity
Cerebellar ataxia & neuropathy
Cerebellar ataxia (metabolic presentation)
Cerebellar ataxia 17
Cerebellar ataxia 2
Cerebellar ataxia 3
Cerebellar ataxia Cayman type
Cerebellar ataxia Congenital cerebellar hypoplasia & cognitive impairment
Cerebellar ataxia X linked
Cerebellar ataxia adult onset
Cerebellar ataxia adult onset with coenzyme Q10 deficiency
Cerebellar ataxia and atrophy
Cerebellar ataxia and demyelinating neuropathy
Cerebellar ataxia and developmental delay
Cerebellar ataxia and quadrupedal locomotion
Cerebellar ataxia autosomal dominant
Cerebellar ataxia autosomal recessive and atrophy
Cerebellar ataxia deafness & narcolepsy
Cerebellar ataxia deafness & narcolepsy/Sensory neuropathy with dementia & hearing loss
Cerebellar ataxia intellectual disability and arthrogryposis
Cerebellar ataxia late onset with pyramidal signs
Cerebellar ataxia mental retardation & dysequilibrium syndrome 3
Cerebellar ataxia mental retardation and dysequilibrium syndrome
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 4
Cerebellar ataxia myoclonic epilepsy cataract deafness and hyperlactatemia
Cerebellar ataxia neuropathy hearing loss and intellectual disability
Cerebellar ataxia non progressive autosomal dominant
Cerebellar ataxia nonprogressive with mental retardation
Cerebellar ataxia plus
Cerebellar ataxia slowly progressive
Cerebellar ataxia type 1 autosomal recessive
Cerebellar ataxia with epilepsy & mental retardation
Cerebellar ataxia with intellectual disability
Cerebellar ataxia with motor neuron disease
Cerebellar ataxia with muscle fibre atrophy
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with oculomotor apraxia
Cerebellar ataxia with oculomotor apraxia like phenotype
Cerebellar ataxia with other neurological features
Cerebellar ataxia with spasticity
Cerebellar ataxia with spasticity & waddling gait
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebellar ataxia/tremor syndrome
Cerebellar atrophy
Cerebellar atrophy childhood onset
Cerebellar atrophy choreoathetosis of limbs and face & intellectual disability
Cerebellar atrophy infantile onset
Cerebellar atrophy progressivem childhood
Cerebellar atrophy with pigmentary retinopathy
Cerebellar atrophy with seizures and variable developmental delay
Cerebellar atrophy with spinal motor neuronopathy
Cerebellar atrophy, developmental delay, and seizures
Cerebellar atrophy, visual impairment, and psychomotor retardation;
Cerebellar cortical atrophy
Cerebellar cysts white matter lesions & cortical dysgenesis
Cerebellar degeneration & motor neuropathy
Cerebellar dysplasia
Cerebellar facial dental syndrome
Cerebellar hypoplasia
Cerebellar hypoplasia and quadrupedal locomotion
Cerebellar hypoplasia mental retardation and leukodystrophy
Cerebellar hypoplasia with endosteal sclerosis
Cerebellar retinal degeneration infantile
Cerebellar syndrome early onset & global developmental delay
Cerebellar vermis defect
Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia Dandy Walker Malformation hydrocephalus developmental delay
Cerebellar vermis hypoplasia ataxia & retinal dystrophy
Cerebellar, ocular, craniofacial, and genital syndrome
Cerebellar-facial-dental syndrome
Cerebello cerebral atrophy progressive type 2
Cerebello oculo facio genital syndrome
Cerebral & cerebellar atrophy
Cerebral abnormalities
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy related inflammation
Cerebral arteriopathy and mydriasis
Cerebral arteriopathy with subcortical infarcts & leukoencephalopathy
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral arteriovenous malformation
Cerebral atrophy autosomal recessive
Cerebral atrophy mental retardation & ptosis
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral calcification
Cerebral cavernous malformation
Cerebral cavernous malformation 1
Cerebral cavernous malformation with posterior fossa ependymoma
Cerebral cavernous malformations
Cerebral cortex development disorder
Cerebral cortical malformations
Cerebral creatine deficiency X linked
Cerebral creatine deficiency syndrome
Cerebral folate transport deficiency
Cerebral haemorrhage
Cerebral hypomyelination
Cerebral infarction
Cerebral large artery atherosclerosis
Cerebral malaria
Cerebral malaria predisposition to
Cerebral malaria predisposition to association
Cerebral palsy
Cerebral palsy abnormal EEG developmental delay & lack of coordination
Cerebral palsy ataxic
Cerebral palsy intellectual disability attention deficit hyperactivity disorder and language impairments
Cerebral palsy modifier of
Cerebral palsy spastic symmetric autosomal recessive
Cerebral palsy spastic tetraplegic
Cerebral palsy/hypoxic ischemic encephalopathy
Cerebral small vessel disease
Cerebral small vessel disease autosomal dominant
Cerebral ventriculomegaly & nephrosis
Cerebral visual impairment
Cerebral visual impairment and intellectual disability
Cerebro oculo facio skeletal syndrome
Cerebrooculofacioskeletal syndrome 1
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 4
Cerebrooculofacioskeletal syndrome and global developmental delay
Cerebroretinal microangiopathy with calcifications & cysts
Cerebroretinal microangiopathy with calcifications and cysts 1
Cerebroretinal microangiopathy with calcifications and cysts 2
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis late onset spinal
Cerebrovascular disease
Cerebrovascular fibromuscular dysplasia risk factor
Cernunnos-XLF deficiency
Ceroid lipofuscinosis, neuronal, 3, protracted
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Cerulean cataract
Cervical adenosarcoma
Cervical artery dissection
Cervical artery dissection increased risk
Cervical artery dissection spontaneous
Cervical cancer decreased risk
Cervical carcinoma
Cervical carcinoma increased risk
Cervical carcinoma survival
Cervical dystonia
Cervical dystonia primary
Cervical insufficiency
Cervical squamous cell carcinoma
Cervical squamous cell carcinoma & endocervical adenocarcinoma
Chanarin Dorfman syndrome
Channelopathy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Char syndrome
Characteristic facial morphology intellectual disability and short stature
Charcot Marie Tooth disease
Charcot Marie Tooth disease & nephrotic syndrome
Charcot Marie Tooth disease 1
Charcot Marie Tooth disease 2
Charcot Marie Tooth disease 4
Charcot Marie Tooth disease X linked type 1
Charcot Marie Tooth disease X linked type 6
Charcot Marie Tooth disease and focal segmental glomerulosclerosis
Charcot Marie Tooth disease and intellectual disability
Charcot Marie Tooth disease and multiple sclerosis
Charcot Marie Tooth disease autosomal dominant
Charcot Marie Tooth disease autosomal recessive
Charcot Marie Tooth disease axonal
Charcot Marie Tooth disease axonal infantile onset
Charcot Marie Tooth disease axonal type 2F
Charcot Marie Tooth disease demyelinating
Charcot Marie Tooth disease dominant intermediate
Charcot Marie Tooth disease early onset axonal
Charcot Marie Tooth disease early onset progressive
Charcot Marie Tooth disease hearing loss & pupil abnormalities
Charcot Marie Tooth disease intermediate
Charcot Marie Tooth disease modifier of
Charcot Marie Tooth disease spinal
Charcot Marie Tooth disease type 1
Charcot Marie Tooth disease type 1 early onset
Charcot Marie Tooth disease type 1 with predominant lecoencephalopathy
Charcot Marie Tooth disease type 1A
Charcot Marie Tooth disease type 1A/Neuropathy with liability to pressure palsies earlier onset
Charcot Marie Tooth disease type 1B
Charcot Marie Tooth disease type 1B/Dejerine Sottas syndrome
Charcot Marie Tooth disease type 1B/Roussy Levy syndrome
Charcot Marie Tooth disease type 1C
Charcot Marie Tooth disease type 1E
Charcot Marie Tooth disease type 1F
Charcot Marie Tooth disease type 2
Charcot Marie Tooth disease type 2 with deafness
Charcot Marie Tooth disease type 2/Motor and sensory neuropathy
Charcot Marie Tooth disease type 2/Motor neuropathy
Charcot Marie Tooth disease type 2/distal motor neuropathy
Charcot Marie Tooth disease type 2A
Charcot Marie Tooth disease type 2A early onset
Charcot Marie Tooth disease type 2A2
Charcot Marie Tooth disease type 2A2B
Charcot Marie Tooth disease type 2B
Charcot Marie Tooth disease type 2B2
Charcot Marie Tooth disease type 2C
Charcot Marie Tooth disease type 2D
Charcot Marie Tooth disease type 2D and distal spinal muscular atrophy
Charcot Marie Tooth disease type 2D/Neuropathy distal hereditary motor type V
Charcot Marie Tooth disease type 2G
Charcot Marie Tooth disease type 2I
Charcot Marie Tooth disease type 2K
Charcot Marie Tooth disease type 2K axonal
Charcot Marie Tooth disease type 2L
Charcot Marie Tooth disease type 2P
Charcot Marie Tooth disease type 2S
Charcot Marie Tooth disease type 2U
Charcot Marie Tooth disease type 2W
Charcot Marie Tooth disease type 2Y
Charcot Marie Tooth disease type 2Z
Charcot Marie Tooth disease type 2d/Neuropathy distal hereditary motor type V
Charcot Marie Tooth disease type 4
Charcot Marie Tooth disease type 4A
Charcot Marie Tooth disease type 4A early onset axonal
Charcot Marie Tooth disease type 4B
Charcot Marie Tooth disease type 4B1
Charcot Marie Tooth disease type 4B2
Charcot Marie Tooth disease type 4B3
Charcot Marie Tooth disease type 4C
Charcot Marie Tooth disease type 4D
Charcot Marie Tooth disease type 4F
Charcot Marie Tooth disease type 4H
Charcot Marie Tooth disease type 4J
Charcot Marie Tooth disease type 5
Charcot Marie Tooth disease type 5 and Arts syndrome
Charcot Marie Tooth disease type 5 with recurrent weakness after febrile illness
Charcot Marie Tooth disease with deafness
Charcot Marie Tooth disease with neurological involvement
Charcot Marie Tooth disease with pyramidal features
Charcot Marie Tooth disease with pyramidal signs
Charcot Marie Tooth neuropathy
Charcot Marie Tooth neuropathy with mild intellectual disability
Charcot-Marie-Tooth Neuropathy X
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease, axonal, Type 2HH
Charcot-Marie-Tooth disease, axonal, type 2FF
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, demyelinating, type 1G
Charcot-Marie-Tooth disease, demyelinating, type 1H
Charcot-Marie-Tooth disease, demyelinating, type 1I
Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths
Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
Charcot-Marie-Tooth disease, type 2M
Charcot-Marie-Tooth disease, type I
Charcot-Marie-Tooth disease, type IA
Charcot-marie-tooth disease, axonal, type 2DD
Charlevoix-Saguenay spastic ataxia
Chediak Higashi syndrome
Chediak-Higashi syndrome, adult type
Cherubism
Chiari malformation type I
Chilblain lupus and and cerebral vasculitis
Chilblain lupus familial
Child syndrome
Childhood absence epilepsy
Childhood absence epilepsy/Epilepsy with generalized tonic clonic seizures alone
Childhood acute lymphoblastic leukaemia
Childhood apraxia of speech
Childhood ataxia with central nervous system hypomyelination
Childhood ataxia with leukodystrophy
Childhood cancer syndrome
Childhood disintegrative disorder
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood encephalopathy progressive & golgi dysfunction
Childhood epilepsy with centrotemporal spikes
Childhood epilepsy with centrotemporal spikes atypical
Childhood hypophosphatasia
Childhood leukaemia predisposition
Childhood onset GLUT1 deficiency syndrome 2
Childhood onset epilepsy focal
Childhood onset epilepsy myoclonic
Childhood onset epilepsy syndrome
Childhood onset epilepsy with myoclonic & atonic seizures
Childhood onset neurodegeneration with cerebellar atrophy
Childhood onset schizophrenia
Childhood onset sensorineural hearing impairment
Childhood-Onset Schizophrenia
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Chitayat syndrome
Chitotriosidase deficiency
Choanal atresia
Cholangiocarcinoma
Cholangiopathy
Cholangitis
Cholelithiasis
Cholestanol storage disease
Cholestasis
Cholestasis anicteric
Cholestasis congenital diarrhea impaired hearing and bone fragility
Cholestasis cryptogenic
Cholestasis developmental delay and short stature
Cholestasis drug induced
Cholestasis early onset
Cholestasis high gamma glutamyltransferase
Cholestasis infantile
Cholestasis intrahepatic
Cholestasis neonatal
Cholestasis with normal gammaglutamyl transferasis
Cholestasis, intrahepatic, of pregnancy, 1
Cholestasis, intrahepatic, of pregnancy, 3
Cholestasis, progressive familial intrahepatic, 4
Cholestasis, progressive familial intrahepatic, 5
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
Cholestatic liver disease
Cholestatic liver disease in children
Cholestatic liver disease in infancy
Cholesterol ester storage disease
Cholesterol ester transfer protein deficiency
Cholinesterasaemia
Chondrocalcinosis 2
Chondrodysplasia
Chondrodysplasia & abnormal joint development
Chondrodysplasia Blomstrand type
Chondrodysplasia CHST3 related
Chondrodysplasia Grebe type
Chondrodysplasia du Pan type
Chondrodysplasia punctata
Chondrodysplasia punctata 2 X-linked dominant
Chondrodysplasia punctata X linked
Chondrodysplasia with congenital joint dislocations.
Chondrodysplasia with joint dislocations, gPAPP type
Chondrodysplasia with platyspondyly
Chondrodysplasia-pseudohermaphroditism syndrome
Chondrosarcoma
Chordoma
Chordoma increased risk
Chorea
Chorea acanthocytosis
Chorea and motor neuron disease
Chorea developmental delay and hypotonia
Chorea dystonia spasticity
Chorea early onset
Chorea psychosis acanthocytosis and prolonged survival
Chorea-acanthocytosis
Choreoathetosis progressive
Chorioretinal atrophy
Chorioretinal coloboma
Chorioretinal degeneration with choroideraemia like fundus appearance
Choroid plexus carcinoma
Choroid plexus carcinoma childhood
Choroidal dystrophy, central areolar 2
Choroideraemia
Choroideremia
Christianson syndrome
Chromosome 1p32-p31 deletion syndrome
Chromosome 2q32-q33 deletion syndrome
Chronic HCV infection in females
Chronic active Epstein Barr virus infection
Chronic aphthous stomatitis and ulcerative esophagitis
Chronic atrial & intestinal dysrhythmia
Chronic atrial and intestinal dysrhythmia
Chronic bleeding disorder
Chronic colitis
Chronic diarrhea
Chronic diarrhea Seizures Hydronephrosis Hirschsprung disease
Chronic granulomatous disease
Chronic granulomatous disease atypical
Chronic heart failure
Chronic hypersensitivity pneumonitis
Chronic infantile neurological, cutaneous and articular syndrome
Chronic infection and pelvic pain
Chronic insomnia
Chronic intestinal pseudo obstruction
Chronic intestinal pseudo obstruction and lymphoproliferative syndrome
Chronic intestinal pseudoobstruction
Chronic kidney disease
Chronic kidney disease in individuals with low triglycerides association
Chronic kidney failure
Chronic lung disease
Chronic lung disease sinus infections abnormal ciliary motility & scoliosis
Chronic lymphocytic leukaemia
Chronic lymphocytic leukaemia risk
Chronic mucocutaneous candidiasis
Chronic multifocal osteomyelitis
Chronic myelogenous leukaemia juvenile
Chronic myelogenous leukemia, BCR-ABL1 positive
Chronic myeloid leukaemia
Chronic myeloid leukaemia progression to blast crisis
Chronic myelomonocytic / acute myeloid leukaemia
Chronic myelomonocytic leukaemia
Chronic neutrophilia
Chronic neutrophilic leukaemia
Chronic non paroxysmal neuropathic pain
Chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease association
Chronic obstructive pulmonary disease in smokers
Chronic obstructive pulmonary disease susceptibility to
Chronic pancreatitis
Chronic pancreatitis early onset
Chronic pancreatitis protection against
Chronic progressive multiple sclerosis
Chronic proteinuria
Chronic pulmonary disease
Chronic recurrent multifocal osteomyelitis
Chronic renal failure
Chronic respiratory insufficiency
Chronic rhinosinusitis and primary ciliary dyskinesia
Chronic urticaria
Chronic yersiniosis susceptibility
Chuvash polycythemia
Chylomicron retention disease
Chylomicronaemia
Chylomicronaemia syndrome
Chylomicronemia syndrome
Chédiak-Higashi syndrome
Cilia related kidney disorder
Ciliary dyskinesia
Ciliary dyskinesia, primary, 36, X-linked
Ciliary dyskinesia, primary, 38
Ciliary dyskinesia, primary, 39
Ciliary dyskinesia, primary, 40
Ciliary dyskinesia, primary, 44
Ciliary dyskinesia, primary, 45
Ciliopathy
Ciliopathy autosomal dominant
Ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts
Circulating monocyte count
Circumferential skin creases Kunze type
Cirrhosis
Cirrhosis nonalcoholic steatohepatitis related
Cirrhosis, cryptogenic
Citrin deficiency
Citrullinaemia
Citrullinaemia adult onset type II
Citrullinemia
Citrullinemia type I
Citrullinemia, mild
Clark-Baraitser syndrome
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classic homocystinuria
Cleft lip
Cleft lip / palate
Cleft lip alveolus
Cleft lip and palate
Cleft lip and palate non syndromic
Cleft lip and palate nonsyndromic
Cleft lip and palate with enamel defects
Cleft lip and palate with tooth agenesis
Cleft lip and/or palate
Cleft lip and/or palate increased risk
Cleft lip and/or palate non syndromic
Cleft lip incomplete
Cleft lip non syndromic
Cleft lip with or without cleft palate
Cleft lip with or without cleft palate nonsyndromic
Cleft lip/palate
Cleft lip/palate Facial dysmorphism Macrocephaly
Cleft lip/palate and rib/vertebral hypersegmentation
Cleft palate
Cleft palate and ankyloglossia
Cleft palate and mental retardation
Cleft palate hypohidrosis and oligodontia
Cleft palate isolated
Cleft palate non syndromic
Cleft palate soft
Cleft palate syndromic
Cleft palate with ankyloglossia
Cleft palate with no lip pits
Cleft palate, proliferative retinopathy, and developmental delay
Cleidocranial dysostosis
Cleidocranial dysplasia
CliFAHDD syndrome
Clitoromegaly
Clonus
Clouston syndrome
Club foot oligohydramnios cystic hygroma/ increased NT skin edema fixed flexion upper limb
Clubfoot
Clumped pigmentary retinal degeneration
Clustering epilepsy female
Co enzyme Q deficiency
Co enzyme Q deficiency with cerebellar ataxia
CoQ10 deficiency
Coagulation factor deficiency syndrome
Coarctation of the aorta
Coarctation of the aorta non syndromic
Coarse face dysostosis respiratory difficulty proteinuria neurological involvement developmental delay & anaemia
Coarse facial features scoliosis pectus excavatum skin laxity hypotonia GERD hyperactive airways undescended testes
Coarse facies & skin broad hands & feet prem. tooth loss gastroint. stromal tumour & inflamm. fibroid polyps
Coats plus
Coats plus & dextrocardia
Coats plus syndrome with telomere defects
Cobalamin C disease
Cobalamin deficiency
Cobblestone like cortical malformation white matter changes and cerebellar cysts
Cobblestone lissencephaly
Cobblestone lissencephaly without muscular or ocular involvement
Cochlear nerve aplasia CNS hypomyelination & hyperpigmentation
Cockayne syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Coeliac disease
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency primary 4
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Coffee taste perception
Coffin Lowry syndrome
Coffin Lowry syndrome & diabetes
Coffin Siris intellectual disability short stature dysmorphic features & hypertrichosis
Coffin Siris syndrome
Coffin Siris syndrome & cardiac anomaly
Coffin Siris syndrome 4
Coffin Siris syndrome 7
Coffin Siris syndrome Pierre Robin sequence & diaphragmatic hernia
Coffin-Lowry syndrome
Coffin-Siris syndrome
Coffin-Siris syndrome 1
Coffin-Siris syndrome 10
Coffin-Siris syndrome 11
Coffin-Siris syndrome 12
Coffin-Siris syndrome 5
Coffin-Siris syndrome 7
Coffin-Siris syndrome 8
Cognition/behavioural disorder and delayed motor development
Cognition/behavioural disorder delayed motor development abnormal gait and seizures
Cognition/behavioural disorder delayed motor development and eye abnormality
Cognition/behavioural disorder delayed motor development eye abnormality abnormal gait and seizures
Cognition/behavioural disorder delayed motor development eye abnormality and abnormal gait
Cognition/behavioural disorder delayed motor development eye abnormality spinal/pelvic deformity and abnormal gait
Cognition/behavioural disorder delayed motor development spinal/pelvic deformity and abnormal gait
Cognition/behavioural disorder eye abnormality abnormal gait and seizures
Cognitive ability
Cognitive and speech delay
Cognitive deficit in schizophrenia
Cognitive delay facial dysmorphism short stature motor impairment and cataract
Cognitive dysfunction with abnormal hair
Cognitive impairment
Cognitive impairment & autism spectrum disorder
Cognitive impairment & coarse facies heart defects obesity pulmonary involvement & short stature
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Cognitive impairment behavioural alterations intrauterine growth restriction feeding problems and congenital malformations
Cognitive impairment failure to thrive hypotonia & dysmorphic features
Cognitive impairment proximal myopathy seizure and leukoencephalopathy
Cognitive impairment short stature & dysmorphisms
Cognitive impairment with or without cerebellar ataxia
Cognitive impairment with or without cerebellar ataxia/Epileptic encephalopathy early infantile 13
Cohen syndrome
Cohen-Gibson syndrome
Cohesinopathy
Colchicine resistance
Cold Induced Sweating Syndrome
Cold aggravated peripheral pain
Cold induced sweating syndrome
Cold induced urticarial autoinflammatory syndrome
Cold-induced sweating syndrome 1
Cold-induced sweating syndrome 2
Cole Carpenter syndrome
Cole disease
Cole-Carpenter syndrome 1
Cole-Carpenter syndrome 2
Colitis increased risk of
Colitis infantile onset with eosinophilic disease
Collagen 6-related myopathy
Collagen IV nephropathy
Collagen VI deficiency
Collagen VI myopathy
Collagenopathy
Collagenopathy type I with severe hypotonia & postnatal growth impairment
Collagenopathy type II
Collapsing glomerulosclerosis
Collodion membrane
Collodion membrane self healing
Collodion self healing
Coloboma
Coloboma and retinoschisis
Coloboma cardiac anomaly and growth retardation
Coloboma of optic nerve
Coloboma renal malformation restricted growth & limb anomalies
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colobomas heart defects ichthyosiform dermatosis mental retardation & ear anomalies
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Colon adenocarcinoma
Colon cancer
Colon cancer breast cancer leukaemia
Colon cancer increased risk
Colon/endometrial cancer
Colonic atresia
Colonic ganglioneuromatous polyps
Colonic neoplasm
Colonic polyposis
Color vision defect
Colorectal / endometrial cancer
Colorectal adenoma
Colorectal adenoma risk
Colorectal adenoma/carcinoma
Colorectal adenoma/carcinoma & cafe au lait spots
Colorectal adenomatous polyposis
Colorectal cancer
Colorectal cancer age of onset
Colorectal cancer early onset
Colorectal cancer in Ashkenazim predisposition to
Colorectal cancer increased risk
Colorectal cancer non polyposis
Colorectal cancer non polyposis early onset
Colorectal cancer predisposition association
Colorectal cancer predisposition to
Colorectal cancer predisposition to association
Colorectal cancer reduced risk
Colorectal cancer risk
Colorectal cancer severe phenotype
Colorectal cancer survival
Colorectal cancer susceptibility to
Colorectal cancer with chromosomal instability, somatic
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 4
Colorectal cancer, hereditary nonpolyposis, type 5
Colorectal cancer, susceptibility to, 10
Colorectal neoplasia reduced risk association
Colorectal polyposis
Colour blindness total
Colton blood group variant
Colton null blood group variant
Colton-null phenotype
Combined alpha delta platlet storage pool deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined hyperlipidemia familial
Combined immune deficiency
Combined immune deficiency & congenital disorders of glycosylation
Combined immune deficiency with mild anaemia
Combined immunodeficiency
Combined immunodeficiency & cancer predisposition
Combined immunodeficiency and hypoglycemia
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined immunodeficiency atypical
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to STIM1 deficiency
Combined immunodeficiency due to ZAP70 deficiency
Combined immunodeficiency due to moesin deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency early onset
Combined immunodeficiency with associated or syndromic features
Combined immunodeficiency with myelodysplastic syndrome
Combined immunodeficiency with severe inflammation and allergy
Combined immunodeficiency with skin granulomas
Combined immunodeficiency, X-linked
Combined malonic and methylmalonic acidemia
Combined mineralocorticoid and glucocorticoid deficiency
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 15
Combined oxidative phosphorylation deficiency 17
Combined oxidative phosphorylation deficiency 19
Combined oxidative phosphorylation deficiency 20
Combined oxidative phosphorylation deficiency 22
Combined oxidative phosphorylation deficiency 23
Combined oxidative phosphorylation deficiency 28
Combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency 32
Combined oxidative phosphorylation deficiency 33
Combined oxidative phosphorylation deficiency 35
Combined oxidative phosphorylation deficiency 36
Combined oxidative phosphorylation deficiency 38
Combined oxidative phosphorylation deficiency 40
Combined oxidative phosphorylation deficiency 43
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 45
Combined oxidative phosphorylation deficiency 46
Combined oxidative phosphorylation deficiency 47
Combined oxidative phosphorylation deficiency 48
Combined oxidative phosphorylation deficiency 50
Combined oxidative phosphorylation deficiency 52
Combined oxidative phosphorylation deficiency 54
Combined oxidative phosphorylation deficiency 55
Combined oxidative phosphorylation syndrome
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
Combined pituitary hormone deficiency
Combined pituitary hormone deficiency bilateral microphthalmia & agenesis of the left internal carotid artery
Common arterial trunk
Common variable agammaglobulinemia
Common variable immunodeficiency with autoimmune cytopaenia
Common variable immunodeficiency with loss of B cells
Complement C1S abnormality
Complement C1S deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C4b deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C9 deficiency
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor
Complement component 5 deficiency
Complement component 7 deficiency
Complement factor I deficiency
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
Complete loss of function
Complex 1 and II deficiency
Complex 1 deficiency
Complex 3 deficiency
Complex 4 deficiency
Complex I deficiency
Complex II deficiency
Complex II/III deficiency
Complex III defective mitochondrial encephalopathy
Complex III deficiency
Complex V deficiency
Complex cardiovascular anomalies
Complex cortical dysplasia with other brain malformations 1
Complex cortical dysplasia with other brain malformations 2
Complex cortical dysplasia with other brain malformations 3
Complex cortical dysplasia with other brain malformations 4
Complex cortical dysplasia with other brain malformations 5
Complex cortical dysplasia with other brain malformations 6
Complex cortical dysplasia with other brain malformations 7
Complex digit malformations
Complex dystonia early onset
Complex hereditary spastic paraplegia
Complex lethal osteochondrodysplasia
Complex neurodevelopmental disorder
Complicated spastic paraplegia autosomal dominant
Compromised apoptotic function
Concentrative nucleoside transporter deficiency
Conduction disorder of the heart
Conduction system disease & junctional ectopic tachycardia
Conduction system disease atrial tachyarrhythmia & dilated cardiomyopathy
Cone / cone rod dystrophy
Cone dysfunction
Cone dysfunction syndrome
Cone dysfunction syndrome and learning disability
Cone dystrophy
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy 5, X-linked
Cone dystrophy autosomal dominant
Cone dystrophy autosomal recessive
Cone dystrophy early onset
Cone dystrophy with supernormal rod ERG
Cone dystrophy with supernormal rod response
Cone dystrophy with supernormal rod responses
Cone monochromatism
Cone rod degeneration
Cone rod degeneration autosomal dominant
Cone rod dysfunction
Cone rod dystrophy
Cone rod dystrophy & retinal telangiectasia
Cone rod dystrophy X linked
Cone rod dystrophy and hearing loss
Cone rod dystrophy autosomal recessive
Cone rod dystrophy early onset
Cone rod dystrophy early onset severe
Cone rod dystrophy with amelogenesis imperfecta (Jalili syndrome)
Cone rod dystrophy with sensorineural hearing loss
Cone rod myopathy
Cone-rod dystrophy
Cone-rod dystrophy 10
Cone-rod dystrophy 11
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 16
Cone-rod dystrophy 19
Cone-rod dystrophy 2
Cone-rod dystrophy 22
Cone-rod dystrophy 3
Cone-rod dystrophy 6
Cone-rod dystrophy and hearing loss 1
Cone/cone rod dystrophy
Cone/cone rod dystrophy with retinal flecks
Congenital NAD deficiency disorder
Congenital absence of salivary gland
Congenital absence of vas deferens
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hypoplasia, X-linked
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Congenital afibrinogenemia
Congenital amegakaryocytic thrombocytopenia
Congenital aneurysm of ascending aorta
Congenital anomalies developmental delay hypotonia epilepsy and progressive cerebellar atrophy
Congenital anomalies of kidney and urinary tract 2
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital anomalies of the kidney and urinary tract
Congenital anomalies of the kidney and urinary tract asplenia diaphragmatic thinning and eventration
Congenital anomalies of the kidney and urinary tract intellectual disability deafness and growth retardation
Congenital anomalies of the kidney and urinary tract lens subluxation and hyperhomocystinaemia
Congenital anomalies of the kidney and urinary tract with microcephaly
Congenital anomalies of the kidney and urinary tract/CAKUT in VACTERL
Congenital anomaly of kidney and urinary tract
Congenital atrichia
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital bilateral perisylvian syndrome
Congenital bile acid synthesis defect 1
Congenital bile acid synthesis defect 2
Congenital bile acid synthesis defect 4
Congenital blindness
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital cataract
Congenital cataract & microcornea
Congenital cataract & neuro skeletal anomalies
Congenital cataract Coppock like
Congenital cataract and microphthalmia
Congenital cataract autosomal dominant
Congenital cataract with microcornea microphthalmia and posterior capsule defect
Congenital cataract with ocular abnormalities
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataracts
Congenital cataracts hearing loss and low serum copper and ceruloplasmin
Congenital central hypoventilation
Congenital cerebellar hypoplasia
Congenital complete heart block
Congenital contractural arachnodactyly
Congenital deafness
Congenital defect of folate absorption
Congenital defects of phagocyte number and/or function
Congenital diaphragmatic hernia
Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 6
Congenital diarrhea 7 with exudative enteropathy
Congenital diarrhoeal disorder
Congenital disorder of O linked glycosylation
Congenital disorder of deglycosylation
Congenital disorder of deglycosylation 2
Congenital disorder of glycosylation
Congenital disorder of glycosylation 1
Congenital disorder of glycosylation 1a
Congenital disorder of glycosylation 1b
Congenital disorder of glycosylation 1c
Congenital disorder of glycosylation 1c modifier of
Congenital disorder of glycosylation 1d
Congenital disorder of glycosylation 1e
Congenital disorder of glycosylation 1f
Congenital disorder of glycosylation 1g
Congenital disorder of glycosylation 1h
Congenital disorder of glycosylation 1i
Congenital disorder of glycosylation 1j
Congenital disorder of glycosylation 1k
Congenital disorder of glycosylation 1l
Congenital disorder of glycosylation 1p
Congenital disorder of glycosylation 2
Congenital disorder of glycosylation 2a
Congenital disorder of glycosylation 2c
Congenital disorder of glycosylation 2l
Congenital disorder of glycosylation 2m with hypertrophic cardiomyopathy hearing loss and short stature
Congenital disorder of glycosylation 2x
Congenital disorder of glycosylation IIf
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type II
Congenital disorder of glycosylation type IIe
Congenital disorder of glycosylation type Ir
Congenital disorder of glycosylation with defective fucosylation 1
Congenital disorder of glycosylation with defective fucosylation 2
Congenital disorder of glycosylation with early onset epileptic encephalopathy
Congenital disorder of glycosylation with severe immunodeficiency & skeletal dysplasia
Congenital disorder of glycosylation, type 2v
Congenital disorder of glycosylation, type IIq
Congenital disorder of glycosylation, type IIr
Congenital disorder of glycosylation, type Iw, autosomal dominant
Congenital disorder of glycosylation, type iit
Congenital disorders of glycosylation type II
Congenital distal and proximal myopathy
Congenital dyserythropoietic anaemia type I
Congenital dyserythropoietic anaemia type I with hydrops fetalis
Congenital dyserythropoietic anaemia type Ib
Congenital dyserythropoietic anemia type 4
Congenital dyserythropoietic anemia type type 1B
Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type III
Congenital dysorythropoietic anaemia type Ia
Congenital factor VII deficiency
Congenital fibre type disproportion
Congenital fibretype disproportion
Congenital fibrosis of extraocular muscles
Congenital fibrosis of extraocular muscles type 1
Congenital fibrosis of the extraocular muscles 1
Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome
Congenital fibrosis of the extraocular muscles 3
Congenital fibrosis of the extraocular muscles 3 & cortical development malformations
Congenital fibrosis of the extraocular muscles with polymicrogyria
Congenital generalised lipodystrophy type 1
Congenital generalised lipodystrophy type 2
Congenital generalised lipodystrophy type 3
Congenital generalised lipodystrophy type 4
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital glaucoma
Congenital glaucoma in Hajdu Cheney syndrome
Congenital glucose-galactose malabsorption
Congenital heart defect
Congenital heart defect in Down's syndrome patient
Congenital heart defects
Congenital heart defects & genital anomalies
Congenital heart defects and ciliary abnormalities
Congenital heart defects and ectodermal dysplasia
Congenital heart defects and intellectual disability
Congenital heart defects and skeletal malformations syndrome
Congenital heart defects dysmorphic facial features & intellectual developmental disorder
Congenital heart defects dysmorphic facial features and intellectual developmental disorder
Congenital heart defects reduced risk
Congenital heart defects syndromic
Congenital heart defects with heterotaxy
Congenital heart defects, multiple types, 2
Congenital heart defects, multiple types, 4
Congenital heart defects, multiple types, 5
Congenital heart disease
Congenital heart disease & Neurodevelopmental disorder
Congenital heart disease & cardiomyopathy adult onset
Congenital heart disease & cleft lip/or palate
Congenital heart disease developmental delay and intellectual disability
Congenital heart disease developmental delay intellectual disability and clinodactyly
Congenital heart disease developmental delay intellectual disability and clinodactyly with joint hypermobility
Congenital heart disease developmental delay/intellectual disability and growth impairment
Congenital heart disease in 22q11.2 deletion syndrome patients
Congenital heart disease non syndromic
Congenital heart disease skeletal abnormalities and failure to thrive
Congenital heart disease with diaphragm anomalies
Congenital heart disease with extracardiac anomalies
Congenital heart disease with extracardiac anomalies & Neurodevelopmental disorder
Congenital heart disease with heterotaxy syndrome
Congenital heart disease with laterality defects
Congenital heart disease with neurodevelopmental disability
Congenital hemolytic anemia
Congenital hereditary endothelial dystrophy of cornea
Congenital high airways obstruction syndrome
Congenital hydrocephalus
Congenital hyperammonemia, type I
Congenital hypomyelinating neuropathy
Congenital hypothyroidism
Congenital hypothyroidism thyrotropin resistance
Congenital hypothyroidism with thyroid dysgenesis
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Congenital hypotrichosis with juvenile macular dystrophy
Congenital ichthyosiform erythroderma
Congenital ichthyosis of skin
Congenital indifference to pain
Congenital indifference to pain partial
Congenital insensitivity to pain
Congenital insensitivity to pain-hypohidrosis syndrome
Congenital isolated adrenocorticotropic hormone deficiency
Congenital lactase deficiency
Congenital lactic acidosis
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lipoid adrenal hyperplasia
Congenital lipoid adrenal hyperplasia and heterochromia iridis
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital lipoid adrenal hyperplasia nonclassical
Congenital long QT syndrome
Congenital malabsorptive diarrhea 4
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital microvillous atrophy
Congenital motor nystagmus
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular atrophy with arthrogryposis multiplex and respiratory insufficiency
Congenital muscular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy with rigid spine
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular hypertrophy-cerebral syndrome
Congenital myasthenia
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome 12
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 14
Congenital myasthenic syndrome 15
Congenital myasthenic syndrome 16
Congenital myasthenic syndrome 18
Congenital myasthenic syndrome 19
Congenital myasthenic syndrome 1A
Congenital myasthenic syndrome 20
Congenital myasthenic syndrome 21
Congenital myasthenic syndrome 22
Congenital myasthenic syndrome 2A
Congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 4A
Congenital myasthenic syndrome 4B
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 5
Congenital myasthenic syndrome 7
Congenital myasthenic syndrome 8
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome and congenital disorder of glycosylation
Congenital myasthenic syndrome due to rapsyn deficiency
Congenital myasthenic syndrome limb girdle
Congenital myasthenic syndrome presynaptic
Congenital myasthenic syndrome type 19
Congenital myasthenic syndrome type 20
Congenital myasthenic syndrome with distal muscle weakness & atrophy
Congenital myasthenic syndrome with episodic apnea
Congenital myasthenic syndrome with periodic paralysis
Congenital myasthenic syndrome with refractory respiratory failure
Congenital myasthenic syndrome with vocal cord paralysis
Congenital myopathy
Congenital myopathy mild
Congenital myopathy myotonia and multiple congenital anomalies
Congenital myopathy with excess of muscle spindles
Congenital myopathy with excess of thin filaments
Congenital myopathy with fiber type disproportion
Congenital myopathy with fibre type disproportion
Congenital myopathy with reduced type 2 muscle fibers
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital nephrosis Finnish type like with cerebral ventriculomegaly & raised alpha fetoprotein
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome
Congenital nephrotic syndrome Finnish type
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital nongoitrous hypothryoidism 6
Congenital nonprogressive myopathy with Moebius and Robin sequences
Congenital pontocerebellar hypoplasia
Congenital primary aphakia
Congenital prothrombin deficiency
Congenital reticular ichthyosiform erythroderma
Congenital retinal detachment nonsyndromic
Congenital scoliosis
Congenital secretory diarrhea, chloride type
Congenital secretory sodium diarrhea 3
Congenital secretory sodium diarrhea 8
Congenital sensorineural hearing impairment
Congenital sensory neuropathy with selective loss of small myelinated fibers
Congenital short bowel syndrome
Congenital short bowel syndrome 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital smooth muscle hamartoma
Congenital stationary night blindness
Congenital stationary night blindness 1A
Congenital stationary night blindness 1B
Congenital stationary night blindness 1C
Congenital stationary night blindness 1F
Congenital stationary night blindness 1G
Congenital stationary night blindness 2A
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 3
Congenital stationary night blindness incomplete
Congenital stationary night blindness, type 2A, severe
Congenital stromal dystrophy
Congenital symmetric circumferential skin creases
Congenital tufted angioma
Congenital tufting enteropathy
Congenital vertebral malformations
Congenital vertical talus
Connective tissue disease
Connective tissue disease autosomal dominant
Connective tissue disorder
Connective tissue weakness
Conotruncal anomaly face syndrome
Conotruncal defect
Conotruncal heart defects
Conotruncal heart defects & Neurodevelopmental disorder
Conotruncal heart defects with extracardiac anomalies
Conotruncal heart defects with extracardiac anomalies & Neurodevelopmental disorder
Conotruncal heart defects with neurodevelopmental disorder
Conradi Hunermann Happle syndrome
Constitutional delay of growth and puberty
Constitutional delay of puberty
Constitutional megaloblastic anemia with severe neurologic disease
Constitutional mismatch repair deficiency syndrome
Contractural arachnodactyly
Contractural arachnodactyly with Marfan syndrome
Contractural syndrome
Contracture foetal akinesia & myasthenia
Contracture syndrome type 3
Contractures rigid spine myopathy with rimmed vacuoles
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Contractures, pterygia, and variable skeletal fusions syndrome 1B
Coproporphyria
Coproporphyria with posterior reversible encephalopathy
Coproporphyria, digenic
Coralliform cataract
Core myopathy
Core myopathy dilated cardiomyopathy respiratory failure & scoliosis
Core myopathy with heart disease
Core rod myopathy
Core/rod disease
Cornea guttata and anterior polar cataract
Cornea plana
Cornea plana 2
Corneal curvature
Corneal dysplasia endothelial
Corneal dystrophy
Corneal dystrophy 2
Corneal dystrophy Avellino
Corneal dystrophy Fuchs endothelial
Corneal dystrophy Fuchs endothelial 4
Corneal dystrophy Fuchs late onset
Corneal dystrophy Meesmann
Corneal dystrophy Reis Bücklers
Corneal dystrophy Schnyder
Corneal dystrophy Thiel Behnke
Corneal dystrophy and perceptive deafness
Corneal dystrophy combined granular lattice type variant of
Corneal dystrophy epithelial basement membrane
Corneal dystrophy gelatinous drop like
Corneal dystrophy granular
Corneal dystrophy granular type I
Corneal dystrophy lattice intermediate type I/IIIA
Corneal dystrophy lattice type
Corneal dystrophy lattice type I
Corneal dystrophy lattice type IIIA
Corneal dystrophy lattice type polymorphic
Corneal dystrophy lattice type with deep deposits
Corneal dystrophy map like
Corneal dystrophy, Fuchs endothelial, 1
Corneal dystrophy, Fuchs endothelial, 3
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy, Fuchs endothelial, 8
Corneal dystrophy, Meesmann, 1
Corneal dystrophy, Meesmann, 2
Corneal dystrophy, lattice type 3A
Corneal dystrophy-perceptive deafness syndrome
Corneal ectasia primary
Corneal endothelial dystrophy
Corneal endothelial dystrophy 2
Corneal intraepithelial dyskeratosis
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Corneal opacity syndromic absent corneal reflex and intellectual disability
Cornelia de Lange / Rett syndrome features
Cornelia de Lange like syndrome
Cornelia de Lange syndrome
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 5
Cornelia de Lange syndrome attenuated
Cornelia de Lange syndrome like features ocular hypertelorism & large fontanelle
Coronal craniosynostosis
Coronal craniosynostosis & intellectual disability
Coronary artery calcification in African Americans
Coronary artery disease
Coronary artery disease and myocardial infarction
Coronary artery disease early onset
Coronary artery disease in diabetes type 2 patients
Coronary artery disease in smokers association
Coronary artery disease increased risk
Coronary artery disease lower risk association
Coronary artery disease normolipidaemic
Coronary artery disease protection
Coronary artery disease reduced risk
Coronary artery disease, autosomal dominant 2
Coronary artery disorder
Coronary artery dissection
Coronary artery ectasia
Coronary artery lesions of Kawasaki disease association
Coronary heart disease
Coronary heart disease in Caucasians
Coronary heart disease increased risk
Coronary heart disease increased risk in smokers association
Coronary heart disease premature
Coronary heart disease reduced risk
Coronary syndrome precocious acute
Coronary thrombosis
Corpus callosum abnormalities in intellectual disability patients
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum dysgenesis
Corpus callosum local dysplasia
Corpus callosum, agenesis of
Cortical atrophy and epilepsy
Cortical bone thickness/bone mineral density
Cortical development malformations and neuronal migration defects
Cortical dysgenesis hydranencephaly like
Cortical dysplasia
Cortical dysplasia and dysmorphic facies
Cortical dysplasia complex with other brain malformations
Cortical dysplasia complex with other brain malformations 2
Cortical malformations & polymicrogyria
Cortical myclonic tremor and epilepsy
Cortical myoclonic tremor & epilepsy
Cortical myoclonus
Corticobasal degeneration
Corticobasal syndrome
Corticosteroid binding globulin deficiency
Corticosterone 18-monooxygenase deficiency
Corticosterone methyl oxidase deficiency
Corticosterone methyloxidase type 2 deficiency
Cortisone reductase deficiency
Cortisone reductase deficiency 1
Cortisone reductase deficiency 2
Cortisone reductase deficiency partial
Costello like syndrome
Costello syndrome
Costello syndrome, severe
Coumarin hypersensitivity
Coumarin resistance
Cowchock syndrome
Cowden / Bannayan Riley Ruvalcaba syndrome
Cowden / Cowden like syndrome
Cowden disease
Cowden like syndrome
Cowden syndrome
Cowden syndrome & Osteosarcoma
Cowden syndrome & thyroid cancer
Cowden syndrome 1
Cowden syndrome 3
Cowden syndrome 5
Cowden syndrome 6
Cowden syndrome 7
Cowden syndrome modifier of
Cowden/Cowden like syndrome
Coxopodopatellar syndrome
Cranial dysinnervation disorder
Cranial midline defects/ mild Okihiro syndrome
Cranial volume
Cranio cerebello cardiac/Ritscher Schinzel like syndrome
Cranio lenticulo sutural dysplasia
Craniocervical dystonia
Craniodiaphyseal dysplasia autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant
Cranioectodermal dysplasia
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 4
Cranioectodermal dysplasia and recurrent pregnancy loss
Cranioectodermal dysplasia type 1
Craniofacial & skeletal abnormalities
Craniofacial and anterior segment developmental abnormalities
Craniofacial anomalies
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniofacial anomalies anterior and posterior segment dysgenesis immunodeficiency and macrocytic anaemia
Craniofacial anomalies pulmonary/visceral disruption & skin laxity
Craniofacial deafness hand syndrome
Craniofacial dysplasia - osteopenia syndrome
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Craniofacial microsomia
Craniofacial-deafness-hand syndrome
Craniofrontonasal syndrome
Craniolenticulosutural dysplasia
Craniometaphyseal dysplasia
Craniometaphyseal dysplasia, autosomal dominant
Craniopharyngioma
Craniorachischisis
Craniosynostosis
Craniosynostosis & dental anomalies
Craniosynostosis & facial dysmorphisms
Craniosynostosis 2
Craniosynostosis 4
Craniosynostosis 6
Craniosynostosis Boston type
Craniosynostosis and apparent intellectual disability
Craniosynostosis and dental anomalies
Craniosynostosis and multiple skeletal anomalies
Craniosynostosis complex
Craniosynostosis delayed tooth eruption & supernumerary teeth
Craniosynostosis hypertelorism facial dysmorphology and bilateral undecended testes
Craniosynostosis isolated metopic
Craniosynostosis nonsyndromic
Craniosynostosis predisposition to
Craniosynostosis sagittal
Craniosynostosis sagittal nonsyndromic
Craniosynostosis syndrome
Craniosynostosis syndromic
Craniosynostosis, nonsyndromic unicoronal
Creatine deficiency
Creatine transporter deficiency
Cree syndrome
Creutzfeldt Jakob disease
Creutzfeldt Jakob syndrome
Creutzfeldt Jakob syndrome increased risk
Creutzfeldt Jakob syndrome protection
Crigler Najjar syndrome
Crigler Najjar syndrome 1
Crigler Najjar syndrome 2
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome, type II
Crisponi syndrome
Crisponi syndrome/cold induced sweating syndrome 1 like
Crisponi/CISS1 syndrome
Crisponi/cold induced sweating syndrome 1 like syndrome
Crohn disease
Crohn disease increased risk
Crohn's disease
Crohn's disease and ulcerative colitis reduced risk
Crohn's disease early onset and autoimmunity
Crohn's disease increased risk
Crohn's disease modifier of
Crohn's disease neonatal onset
Crohn's disease protection against
Crohn's disease risk
Crohn's disease susceptibility
Crohn's disease susceptibility to
Crohn's disease susceptibility to association
Crohns Disease
Cromer blood group
Crouzon / Pfeiffer syndrome
Crouzon like craniosynostosis
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
Crouzon syndrome-acanthosis nigricans syndrome
Cryohydrocytosis
Cryohydrocytosis stomatin deficient
Cryopyrin associated periodic syndrome
Cryptogenic cirrhosis
Cryptogenic focal epilepsy
Cryptogenic generalised epilepsy
Cryptogenic liver disease
Cryptophthalmos
Cryptorchidism
Cryptorchidism and hypospadia
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Cryptozoospermia
Curly hair, ankyloblepharon, nail dysplasia syndrome
Currarino syndrome
Currarino triad
Curry Jones syndrome
Curry-Jones syndrome
Cushing disease
Cushing syndrome
Cushing syndrome developmental delay and dysmorphic features
Cutaneomucosal venous malformation
Cutaneous erythematous nodes urticarial rash arthralgias and late onset enterocolitis
Cutaneous finger syndactyly
Cutaneous leiomyomatosis
Cutaneous mastocytosis
Cutaneous melanoma
Cutaneous melanoma & multiple primary cancers
Cutaneous melanoma susceptibility
Cutaneous melanoma susceptibility to
Cutaneous photosensitivity
Cutaneous pleomorphic fibroma
Cutaneous porphyria
Cuticular drusen
Cutis aplasia
Cutis laxa
Cutis laxa Dandy Walker malformation & microcephaly
Cutis laxa arachnodactyly & vascular abnormalities
Cutis laxa autosomal dominant
Cutis laxa autosomal dominant with progeroid features
Cutis laxa autosomal recessive
Cutis laxa autosomal recessive type 1
Cutis laxa autosomal recessive type 1B
Cutis laxa autosomal recessive type 1C
Cutis laxa autosomal recessive type 2
Cutis laxa autosomal recessive type 2B
Cutis laxa autosomal recessive type 3A
Cutis laxa autosomal recessive type 3A with Warburg Micro syndrome features
Cutis laxa fat pads & retinopathy
Cutis laxa syndrome
Cutis laxa type 2A
Cutis laxa type 2B
Cutis laxa with progeroid features
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Cutis laxa, X-linked
Cutis laxa, autosomal dominant 3
Cutis laxa, autosomal recessive, type 1A
Cutis laxa, autosomal recessive, type 1B
Cyanosis, transient neonatal
Cyclic neutropenia arthritis
Cyclic vomiting syndrome increased risk
Cyclical neutropenia
Cylindrical spiral myopathy
Cystathionine elevations
Cystathioninuria
Cystic fibrosis
Cystic fibrosis atypical
Cystic fibrosis lung disease modifier of
Cystic fibrosis modifier of
Cystic fibrosis non classic
Cystic fibrosis nonprogressive modifier
Cystic fibrosis related disorder
Cystic fibrosis with pancreatic insufficiency
Cystic hygroma
Cystic kidney disease
Cystic leukoencephalopathy
Cystic leukoencephalopathy with cortical dysplasia
Cystic leukoencephalopathy without megalencephaly
Cystic renal disease
Cystic renal disease nephrogenic diabetes insipidus & polycytaemia
Cystic renal dysplasia
Cystine urolithiasis
Cystinosis
Cystinosis benign
Cystinosis intermediate
Cystinosis nephropathic
Cystinosis nephropathic infantile
Cystinosis nephropathic juvenile
Cystinosis nephropathic late onset
Cystinosis non classical
Cystinosis ocular
Cystinosis, atypical nephropathic
Cystinuria
Cystinuria non type I
Cystinuria type B
Cystinuria type I
Cytochrome P450 deficiency
Cytochrome c oxidase deficiency
Cytochrome c oxidase i deficiency
Cytochrome-c oxidase deficiency disease
Cytopaenia
Cytopenias lymphadenopathy and splenomegaly
Cytosarcoma phyllodes
Cytosolic PEPCK deficiency
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Czech dysplasia, metatarsal type
D 2 and I 2 OH glutaricaciduria
D 2 and I 2 OH glutaricaciduria/congenital myasthenic syndrome
D 2 hydroxyglutaric aciduria
D 2 hydroxyglutaric aciduria type II
D bifunctional protein deficiency
D bifunctional protein deficiency with male infertility
D gkycerate kinase deficiency
D glyceric aciduria
D,L-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
DAVID syndrome
DBR1 deficiency partial
DDX3X syndrome
DDX41-related hematologic malignancy predisposition syndrome
DELAYED PUBERTY, SELF-LIMITED
DEND syndrome
DEND syndrome intermediate
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DFNA36 hearing loss
DFNB66 deafness
DFNB7/B11 deafness
DFNB97 hearing loss
DICER1 syndrome
DK1-CDG
DNA repair
DNA topoisomerase I, camptothecin-resistant
DNAase deficiency
DOCK2 deficiency
DOCK8 deficiency
DOORS syndrome
DPAGT1-CDG
DPM3-CDG
DRUG METABOLISM, ALTERED, CES1-RELATED
DYRK1A-related intellectual disability syndrome
DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
DZ twinning
Dalmatian hypouricemia
Dandy Walker malformation
Dandy Walker malformation & hydronephrosis
Dandy Walker malformation and intellectual disability
Dandy Walker malformation and intrauterine growth restriction
Dandy Walker malformation and occipital cephaloceles
Dandy Walker malformation cardiomegaly and holoproencephaly
Dandy-Walker syndrome
Danon disease
Darier disease
Darier disease, acral hemorrhagic type
Darier disease, segmental
Darker eye colour
Davidenkow syndrome
De Barsy syndrome
De Lange syndrome
De novo ceramide synthesis pathway
Deafblindness with enamel dysplasia and microcephaly
Deafness
Deafness and palmoplantar hyperkeratosis
Deafness and palmoplantar keratoderma
Deafness associated with peripheral neuropathy
Deafness autosomal dominant
Deafness autosomal dominant 12
Deafness autosomal dominant 17
Deafness autosomal dominant 2
Deafness autosomal dominant 22
Deafness autosomal dominant 3
Deafness autosomal dominant 8
Deafness autosomal recessive
Deafness autosomal recessive 1
Deafness autosomal recessive 12
Deafness autosomal recessive 12 modifier of
Deafness autosomal recessive 77
Deafness autosomal recessive 9
Deafness bilateral with inner ear malformation
Deafness childhood onset
Deafness childhood severe
Deafness congenital mild
Deafness congenital severe
Deafness developmental regression and leukoencephalopathy
Deafness dominant progressive
Deafness dystonia & cerebral hypomyelination
Deafness dystonia syndrome
Deafness non syndromic
Deafness non syndromic autosomal dominant
Deafness non syndromic autosomal recessive
Deafness nonsyndromic
Deafness nonsyndromic sensorineural
Deafness nonsyndromic sensorineural 25
Deafness onychodystrophy osteodystrophy mental retardation and seizures syndrome
Deafness profound autosomal recessive
Deafness profound suppressor of
Deafness progressive
Deafness progressive partial
Deafness sensorineural non syndromic 11
Deafness sporadic
Deafness tubulopathy growth retardation & microcephaly
Deafness unilateral
Deafness visual impairment & developmental delay
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness, X-linked 5
Deafness, Y-linked 2
Deafness, autosomal dominant 81
Deafness, autosomal dominant 83
Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
Deafness, congenital heart defects, and posterior embryotoxon
Deafness, congenital, and adult-onset progressive leukoencephalopathy
Deafness, digenic, GJB2/GJB3
Deafness, without vestibular involvement, autosomal dominant
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-lymphedema-leukemia syndrome
Decapitated and decaudated spermatozoa
Decreased 20 HETE production
Decreased HDL3 C and apoA I level in females
Decreased NF KB activation
Decreased Src binding & decreased protein stability in presence of active Src
Decreased activity
Decreased activity of mitochondrial ATP synthase complex
Decreased adenylyl cyclase activity
Decreased adult height
Decreased affinity for exemestane
Decreased binding affinity
Decreased bioactivity
Decreased body mass index
Decreased bone mineral density association
Decreased catalytic activity
Decreased catalytic efficiency
Decreased cell surface expression
Decreased circulating IGF 1 levels
Decreased circulating antibody level
Decreased cleavage rate
Decreased drug resistance
Decreased enzyme activity
Decreased estradiol 17beta glucuronide transport
Decreased expression
Decreased factor VIII activity
Decreased fibrinogen
Decreased fibrinogen levels
Decreased function
Decreased glomerular filtration rate
Decreased growth in yeast after DNA damage
Decreased haemolytic activity
Decreased hydroxylation
Decreased ligand sensitivity
Decreased lipopolysaccharide induced signaling
Decreased methionine synthase activity
Decreased monoamine uptake
Decreased mortality in heart failure
Decreased oseltamivir metabolism
Decreased peripheral vision & night blindness
Decreased plasma fibrinogen levels
Decreased pro apoptotic activity
Decreased protein expression
Decreased protein stability
Decreased protein stability in presence of active Src
Decreased receptor expression
Decreased recombination rate
Decreased response to PKA mediated phosphorylation
Decreased transport activity
Decreased transporter function
Deeah syndrome
Deep dermatophytosis
Deep sleep duration and intensity
Deep vein thrombosis
Deep vein thrombosis reduced risk
Deep venous thrombosis
Defective IFNbeta stimulation
Defective PAPP A binding
Defective calcium binding
Defective calcium regulation
Defective collagen binding
Defective craniofacial morphogenesis & heart blood bone & germ cell ontogeny
Defective haem transport
Defective porphyrin transport
Defective protein protein interactions with MLH1
Defective spermatogenesis
Defective splicing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of bisphosphoglycerate mutase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyrylcholine esterase
Deficiency of cytochrome-b5 reductase
Deficiency of ferroxidase
Deficiency of galactokinase
Deficiency of glycerol kinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of iodide peroxidase
Deficiency of isobutyryl-CoA dehydrogenase
Deficiency of malonyl-CoA decarboxylase
Deficiency of phosphoserine phosphatase
Deficiency of ribose-5-phosphate isomerase
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Deficiency of transaldolase
Deformed rib cage short ribs and long bones abnormal heart morphology and abnormality of the lung
Degenerative brain disease
Dehydrated hereditary stomatocytosis 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Dejerine Sottas syndrome
Dejerine-Sottas disease
Dejerine-Sottas syndrome, autosomal dominant
Dejerine-sottas neuropathy, autosomal dominant
Delayed gross motor development
Delayed motor milestones pes cavus & lower limb atrophy
Delayed myelination organomegaly and hypopigmentation
Delayed myelination with mitochondrial dysfunction
Delayed puberty
Delayed puberty self limited
Delayed skeletal maturation
Delayed sleep phase syndrome
Delayed sleep wake phase disorder
Delayed speech
Delayed speech and language development
Delpire-McNeill syndrome
Delta storage pool deficiency
Delta thalassaemia
Dementia
Dementia and/or parkinsonism
Dementia familial
Dementia late onset
Dementia neurodegenerative
Dementia pyramidal system involvement and leukoencephalopathy
Dementia with Lewy bodies
Dementia with lysosomal inclusions
Dementia, Lewy body, susceptibility to
Demyelinating neuropathy
Demyelinating peripheral neuropathy
Demyelinating peripheral neuropathy cerebellar atrophy and cognitive deficit
Demyelinating polyneuropathy
Dendritic cell monocyte B & NK lymphoid deficiency
Dense deposit disease
Dense granule secretion deficiency
Dent (Japan) disease
Dent disease
Dent disease 2
Dent disease modifier
Dent disease type 1
Dent disease type 2
Dent disease/Nephrolithiasis type 1
Dental anomalies
Dental anomalies isolated
Dental caries in adults
Dental caries in children
Dental disorder non syndromic
Denticles
Dentin dysplasia type 1
Dentin dysplasia type II
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type I
Dentinogenesis imperfecta type II
Denys Drash syndrome
Denys Drash syndrome incomplete
Depression
Depression ataxia and cardiomyopathy
Depressive disorder protection against
Depressive symptoms
Dermatofibromas
Desbuquois dysplasia
Desbuquois dysplasia 1
Desbuquois dysplasia 2
Desbuquois dysplasia Kim variant
Desbuquois dysplasia type 1
Desbuquois dysplasia type 2
Desbuquois dysplasia/diastrophic dysplasia
Desmin myopathy with cardiomyopathy
Desmoglein 1 deficiency with epithelial barrier dysfunction
Desmosterolosis
Deuteranopia
Develop. delay/intell. disability ASD/autistic features attention disorder/hyperactivity & dysmorph. craniofacial features
Developmental & epileptic encephalopathy
Developmental & epileptic encephalopathy cerebellar dysgenesis facial dysmorphism & postnatal growth delay
Developmental & language delay hypotonia microcephaly & behavioural disorder
Developmental and degenerative epileptic dyskinetic encephalopathy
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 100
Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy 89
Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy 96
Developmental and epileptic encephalopathy 97
Developmental and epileptic encephalopathy 99
Developmental and epileptic encephalopathy with macrocephaly
Developmental and epileptic encephalopathy with movement disorder
Developmental and epileptic encephalopathy with movement disorder contractures and macrocephaly
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 13
Developmental and epileptic encephalopathy, 14
Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 17
Developmental and epileptic encephalopathy, 18
Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 24
Developmental and epileptic encephalopathy, 25
Developmental and epileptic encephalopathy, 26
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 29
Developmental and epileptic encephalopathy, 30
Developmental and epileptic encephalopathy, 31
Developmental and epileptic encephalopathy, 32
Developmental and epileptic encephalopathy, 33
Developmental and epileptic encephalopathy, 34
Developmental and epileptic encephalopathy, 35
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 40
Developmental and epileptic encephalopathy, 41
Developmental and epileptic encephalopathy, 42
Developmental and epileptic encephalopathy, 43
Developmental and epileptic encephalopathy, 44
Developmental and epileptic encephalopathy, 45
Developmental and epileptic encephalopathy, 46
Developmental and epileptic encephalopathy, 47
Developmental and epileptic encephalopathy, 49
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 50
Developmental and epileptic encephalopathy, 51
Developmental and epileptic encephalopathy, 52
Developmental and epileptic encephalopathy, 53
Developmental and epileptic encephalopathy, 54
Developmental and epileptic encephalopathy, 56
Developmental and epileptic encephalopathy, 57
Developmental and epileptic encephalopathy, 58
Developmental and epileptic encephalopathy, 59
Developmental and epileptic encephalopathy, 60
Developmental and epileptic encephalopathy, 61
Developmental and epileptic encephalopathy, 62
Developmental and epileptic encephalopathy, 64
Developmental and epileptic encephalopathy, 65
Developmental and epileptic encephalopathy, 67
Developmental and epileptic encephalopathy, 69
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 70
Developmental and epileptic encephalopathy, 71
Developmental and epileptic encephalopathy, 72
Developmental and epileptic encephalopathy, 73
Developmental and epileptic encephalopathy, 74
Developmental and epileptic encephalopathy, 76
Developmental and epileptic encephalopathy, 77
Developmental and epileptic encephalopathy, 78
Developmental and epileptic encephalopathy, 79
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 80
Developmental and epileptic encephalopathy, 81
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Developmental and epileptic encephalopathy, 87
Developmental and epileptic encephalopathy, 88
Developmental and epileptic encephalopathy, 9
Developmental and epileptic encephalopathy, 90
Developmental brain defect with basal ganglia agenesis
Developmental cataract
Developmental delay
Developmental delay & behavioural difficulties
Developmental delay & congenital malformations
Developmental delay & dysmorphic features
Developmental delay & epilepsy
Developmental delay & hypertrophic cardiomyopathy
Developmental delay & hypotonia
Developmental delay & intellectual disability
Developmental delay & lactic acidosis
Developmental delay & microcephaly
Developmental delay & movement disorder
Developmental delay & myoclonic epilepsy
Developmental delay & myopathic hypotonia
Developmental delay & primary microcephaly
Developmental delay & seizures
Developmental delay & skeletal dysplasia infantile onset
Developmental delay / intellectual disability & epilepsy
Developmental delay ADHD hypotonia brain malformations & short fifth finger
Developmental delay ADHD seizures brain atrophy & thin corpus callosum
Developmental delay Facial dysmorphic hypotonia
Developmental delay Turner type
Developmental delay absent fingers in left side adrenoleukodystrophy
Developmental delay absent speech epilepsy encephalopathy hypotonia & macrocephaly
Developmental delay accelerated linear growth facial dysmorphisms and CNS abnormalities
Developmental delay and ataxia
Developmental delay and autism
Developmental delay and autism spectrum disorder
Developmental delay and autistic symptoms
Developmental delay and behavioural disorder
Developmental delay and epilepsy
Developmental delay and hypotonia
Developmental delay and intellectual disability
Developmental delay and macrocephaly
Developmental delay and microcephaly
Developmental delay and myoclonic epilepsy
Developmental delay and neurological impairment
Developmental delay and polyneuropathy
Developmental delay and progressive ataxia
Developmental delay and regression hypotonia and seizures
Developmental delay and seizures
Developmental delay and seizures with or without movement abnormalities
Developmental delay and visual inattentiveness and athetoid movements with dystonic posturing
Developmental delay and/or epilepsy
Developmental delay ataxia cranial nerve palsies & severe respiratory problems
Developmental delay autism and hypotonia
Developmental delay autism and structural brain anomalies
Developmental delay autism hypotonia and structural brain anomalies
Developmental delay autistic behaviour seizures myopia strabismus & obesity
Developmental delay behavioural disorder and epilepsy
Developmental delay brain abnormalities delayed myelination & axial hypotonia
Developmental delay cerebellar atrophy ataxia and cryptorchidism
Developmental delay coarse facial features & epilepsy
Developmental delay congenital anomalies & dysmorphic features
Developmental delay cryptorchidism macrocephaly hepatosplenomegaly dysmorphic facies & frequent respiratoy infections
Developmental delay dysmorphia and tubulopathy
Developmental delay dystonia and spasticity
Developmental delay dystonia dysarthria and neuroimaging abnormalities
Developmental delay endo and exocrine dysfunction sensory and autonomic nervous system impairment and haematological anomalies
Developmental delay epilepsy & brain abnormalities
Developmental delay epilepsy & facial dysmorphism
Developmental delay epilepsy & microcephaly
Developmental delay epilepsy & neonatal diabetes
Developmental delay epilepsy ataxia & mitochondrial dysfunction
Developmental delay epilepsy cerebellar atrophy & osteopenia
Developmental delay exercise intolerance muscle weakness
Developmental delay facial dysmorphia and skeletal and brain abnormalities
Developmental delay facial dysmorphia ventricular arrhythmia and thrombocytopaenia
Developmental delay failure to thrive ataxia hypotonia and tonic clonic seizures
Developmental delay failure to thrive infantile spasms & cardiac features
Developmental delay failure to thrive short stature & polydactyly
Developmental delay febrile seizures facial dysmorphism & brain atrophy
Developmental delay growth failure solitary kidney cryptochordism hypotonia & overlapping fingers
Developmental delay growth retardation and microcephaly
Developmental delay hearing loss and dilated cardiomyopathy
Developmental delay hypertelorism asymmetric head facial dysmorphism hypotonia
Developmental delay hypotonia & epilepsy
Developmental delay hypotonia & ophthalmoplegia
Developmental delay hypotonia & seizures
Developmental delay hypotonia and hyperkinetic movement disorder
Developmental delay hypotonia and optic atrophy
Developmental delay hypotonia ataxia and tooth enamel defects
Developmental delay hypotonia infantile spasma microcephaly & limb hypertonia
Developmental delay hypotonia intellectual disability hypomyelination seizure & brain atrophy
Developmental delay hypotonia joint contractures behavioural abnormalities Marfanoid habitus and scoliosis
Developmental delay hypotonia microcephaly abnormal gait & Angelman like phenotype
Developmental delay hypotonia scoliosis & cerebellar atrophy
Developmental delay hypotonia seizures & distinctive facial features
Developmental delay hypotonia speech impairment and seizures
Developmental delay infantile spasms abnormal sulcation/gyration cerebral atrophy hypotonia & facial abnormalities
Developmental delay intellectual disability & growth retardation
Developmental delay intellectual disability and autism spectrum disorder
Developmental delay intellectual disability and dysmorphic facial features
Developmental delay intellectual disability and dysmorphic features
Developmental delay intellectual disability and epilepsy
Developmental delay intellectual disability and faciodigital dysmorphism
Developmental delay intellectual disability and growth retardation
Developmental delay intellectual disability and hyperactivity
Developmental delay intellectual disability epilepsy and microcephaly
Developmental delay intellectual disability hypotonia and seizures
Developmental delay intellectual disability hypotonia dysmorphic facial features and failure to thrive
Developmental delay intellectual disability hypotonia feeding difficulties and small hands and feet
Developmental delay intellectual disability hypotonia hypomyelination elbow/knee contractures & nystagmus
Developmental delay intellectual disability impaired growth and craniofacial abnormalities
Developmental delay intellectual disability micro penis
Developmental delay intellectual disability microcephaly hypotonia muscle atrophy & oropharyngeal anomalies
Developmental delay intellectual disability muscular hypotonia and seizures
Developmental delay intellectual disability obesity & dysmorphic features
Developmental delay intellectual disability obesity and attention deficit hyperactivity disorder
Developmental delay intellectual disability obesity seizures and behavioural anomalies
Developmental delay intellectual disability seizures hypotonia & spastic paraparesis
Developmental delay laryngeal hypoplasia feeding problems & ventricular septal defect
Developmental delay lung cysts overgrowth & Wilms tumour
Developmental delay macrocephaly and epilepsy
Developmental delay macrocephaly seizures and ataxic gait
Developmental delay microcephaly & facial dysmorphism
Developmental delay microcephaly & hypomyelination
Developmental delay microcephaly and epilepsy
Developmental delay microcephaly and neurobehavioural abnormalities
Developmental delay microcephaly brain & heart defects anteriorly placed anus & skin macules
Developmental delay microcephaly distinctive facial features & multiple congenital anomalies
Developmental delay microcephaly epilepsy & facial dysmorphism
Developmental delay microcephaly epilepsy & hearing impairment
Developmental delay microcephaly failure to thrive
Developmental delay microcephaly hypotonia & infantile spasm
Developmental delay microcephaly hypotonia severe intellectual disability speech delay and spasticity
Developmental delay microcephaly microtia with hearing loss language delay ADHD and dysmorphic features
Developmental delay microcephaly short stature epilepsy spasticity & hypomyelination
Developmental delay midface hypoplasia and elliptocytosis
Developmental delay movement disorder and microcephaly
Developmental delay muscular hypotonia & epilepsy
Developmental delay muscular hypotonia epileptic seizures inverted nipples & visual impairment
Developmental delay non syndromic
Developmental delay poor coordination & seizures
Developmental delay poor growth and sensorineural hearing loss
Developmental delay progressive cerebellar atrophy & hypotonia
Developmental delay reduced growth seizures & hypotonia
Developmental delay refractory epilepsy & polymicrogyria
Developmental delay seizures & hypotonia
Developmental delay seizures and hyperactivity
Developmental delay seizures ataxia hypertonia spasticity
Developmental delay seizures axial hypotonia cortical atrophy & thin corpus callosum
Developmental delay seizures cerebellar atrophy nystagmus & dystonia
Developmental delay seizures coronal craniosynostosis strabismus & Chiari I malformation
Developmental delay seizures dystonia and nystagmus
Developmental delay seizures epileptic spasms & cortical visual impairment
Developmental delay short stature EEG abnormalities psychosis and mental retardation
Developmental delay short stature and microcephaly
Developmental delay short stature cerebellar hypoplasia and motor weakness
Developmental delay short stature dysmorphic features & sparse hair
Developmental delay spasticity arthrogryposis microcephaly short stature ventricular septal defect and hearing loss
Developmental delay white matter alterations and neurological decompensation
Developmental delay with autism spectrum disorder and gait instability
Developmental delay with dysmorphic facies polymicrogyria and periventricular heterotopias
Developmental delay with movement disorder
Developmental delay with or without dysmorphic facies and autism
Developmental delay with seizures
Developmental delay with severe speech impediment facial dysmorphism & dental anomalies
Developmental delay with variable neurologic and brain abnormalities
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Developmental delay, intellectual disability, obesity, and dysmorphic features
Developmental delay/intellectual disability
Developmental delay/intellectual disability & other abnormalities
Developmental delay/intellectual disability & speech delay syndromic
Developmental delay/intellectual disability and autism
Developmental delay/intellectual disability and hypotonia
Developmental delay/intellectual disability and sensorineural deafness
Developmental delay/intellectual disability autism and structural brain anomalies
Developmental delay/intellectual disability autism hypotonia and structural brain anomalies
Developmental delay/intellectual disability behavioural problems learning disorder skeletal and craniofacial anomalies
Developmental delay/intellectual disability coarse facial features and Blaschkoid pigmentary mosaicism
Developmental delay/intellectual disability gross motor delay fine motor delay speech delay and autism/autistic features
Developmental delay/intellectual disability growth failure hearing loss choanal atresia and hypoparathyoidism
Developmental delay/intellectual disability hypotonia & microcephaly
Developmental delay/intellectual disability hypotonia and structural brain anomalies
Developmental delay/intellectual disability neuromuscular & psychiatric symptoms
Developmental delay/intellectual disability polymicrogyria cardiomyopathy & nystagmus
Developmental delay/intellectual disability seizures & hypotonia
Developmental delay/intellectual disability seizures and behavioural abnormalities
Developmental delay/intellectual disability speech delay & seizures
Developmental disability and macrocephaly
Developmental disability microcephaly and thrombocytopaenia
Developmental disorder
Developmental disorder and intellectual disability
Developmental disorder autism spectrum disorder and hypotonia
Developmental dyslexia
Developmental dysplasia of the hip
Developmental encephalopathy
Developmental encephalopathy without seizures
Developmental epilepsy
Developmental epileptic encephalopathy
Developmental epileptic encephalopathy with hypomyelination & brain atrophy
Developmental language disorder
Developmental malformations sensory hearing loss & dystonia
Developmental malformations-deafness-dystonia syndrome
Developmental regression
Developmental regression brain atrophy ataxia
Developmental regression recurrent fever anaemia immunodeficiency
Developmental regression seizures
Developmental verbal dyspraxia
Dextro transposition of the great arteries
Dextro-looped transposition of the great arteries 1
Dextrocardia and complex heart defect
Dextrocardia and situs disturbances
Dextrocardia interrupted inferior vena cava recurrent chest infection sinusitis with possible diagnosis of primary ciliary dyskinesia
DiGeorge syndrome
Diabetes
Diabetes mild
Diabetes MODY
Diabetes MODY with intellectual disability
Diabetes MODY1
Diabetes MODY2
Diabetes MODY3
Diabetes MODY4
Diabetes MODY5
Diabetes MODY6
Diabetes MODY9
Diabetes NIDDM
Diabetes NIDDM susceptibility association
Diabetes adult onset
Diabetes and bone marrow failure
Diabetes childhood onset 1B
Diabetes congenital heart disease and renal abnormalities
Diabetes early onset
Diabetes early onset MODY
Diabetes early onset and transient hepatic dysfunction
Diabetes early onset association
Diabetes early onset renal dysfunction
Diabetes early onset with nephropathy
Diabetes gestational
Diabetes hyperuricaemia and hypomagnesaemia
Diabetes in overweight people
Diabetes in pregnancy
Diabetes infantile
Diabetes insipidus central
Diabetes insipidus nephrogenic
Diabetes insipidus nephrogenic partial
Diabetes insipidus neurohypophyseal
Diabetes insipidus neurohypophyseal late onset
Diabetes insipidus partial nephrogenic
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, nephrogenic, autosomal
Diabetes insipidus, neurohypophyseal, autosomal recessive
Diabetes insulin dependent non autoimmune
Diabetes juvenile onset
Diabetes ketosis prone increased risk
Diabetes mellitus
Diabetes mellitus 2
Diabetes mellitus 2 early onset
Diabetes mellitus hypertriglyceridaemia and non alcoholoic fatty liver disease
Diabetes mellitus neonatal
Diabetes mellitus neonatal with duodenal atresia annular pancreas and gall bladder hypoplasia
Diabetes mellitus post transplant
Diabetes mellitus transient neonatal
Diabetes mellitus type 1
Diabetes mellitus type 2
Diabetes mellitus type 2 & gestational
Diabetes mellitus type 2 increased risk
Diabetes mellitus type 2 susceptibility to
Diabetes mellitus with reactive hypoglycaemia
Diabetes mellitus, permanent neonatal 2
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, transient neonatal, 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 3
Diabetes neonatal
Diabetes neonatal onset
Diabetes neonatal with intestinal atresia
Diabetes neonatal with neurological symptoms
Diabetes neonatal/adult onset
Diabetes non autoimmune
Diabetes non autoimmune early onset
Diabetes permanent neonatal
Diabetes permanent neonatal & enteric anendocrinosis
Diabetes protection against
Diabetes susceptibility
Diabetes transient neonatal
Diabetes type 1
Diabetes type 1 and sensorineural hearing loss
Diabetes type 1 resistance to
Diabetes type 1A
Diabetes type 1B
Diabetes type 2
Diabetes type 2 arterial hypertension and dyslipidaemia
Diabetes type 2 early onset
Diabetes type 2 early onset autosomal dominant
Diabetes type 2 increased risk
Diabetes type 2 lower risk
Diabetes type 2 protection against
Diabetes type 2 protection association
Diabetes type 2 reduced risk
Diabetes type 2 risk
Diabetes type 2 susceptibility
Diabetes type 2 susceptibility to
Diabetes type 2 susceptibility to association
Diabetes type II in middle aged subjects
Diabetes/persistent hyperglycemia
Diabetic kidney disease
Diabetic kidney disease in MODY modifier of
Diabetic nephropathy
Diabetic nephropathy reduced risk
Diabetic neuropathy painful
Diabetic polyneuropathy reduced risk
Diabetic retinopathy
Diamond Blackfan anaemia
Diamond Blackfan anaemia modifier of
Diamond Blackfan anaemia with mandibulofacial dystostosis
Diamond-Blackfan anemia
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia-like
Diaphanospondylodysostosis
Diaphanospondylodysostosis attenuated
Diaphragmatic hernia
Diaphragmatic hernia & cardiovascular defect
Diaphragmatic hernia 3
Diaphragmatic hernia congenital
Diarrhea 10, protein-losing enteropathy type
Diarrhea 3, secretory sodium, congenital, syndromic
Diarrhea and enteropathy
Diarrhoea 4 malabsorptive congenital
Diarrhoea congenital chloride
Diarrhoea intractable
Diarrhoea refractory
Diarrhoea syndrome familial
Dias Logan syndrome
Dias-Logan syndrome
Diastrophic dysplasia
Diastrophic dysplasia mild
Diastrophic dysplasia, broad bone-platyspondylic variant
Diastrophic dysplasia/Multiple Epiphyseal dysplasia
Dicarboxylic aminoaciduria
Diencephalic-mesencephalic junction dysplasia syndrome 1
Diencephalic-mesencephalic junction dysplasia syndrome 2
Diets-Jongmans syndrome
Difference of sexual differentiation
Differentiated thyroid carcinoma
Difficulty in swallowing Frequent aspiration and choking Retrognathia Delayed development
Diffuse brain calcification gaze palsy & systemic lupus erythematosus
Diffuse capillary malformation and undergrowth
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Diffuse large B cell lymphoma
Diffuse lung disease
Diffuse mesangial sclerosis
Diffuse nonepidermolytic palmoplantar keratoderma
Diffuse parenchymal lung disease
Digital abnormalities intellectual disability & short stature
Digital arthropathy brachydactyly
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase deficiency partial
Dilated Cardiomyopathy, Dominant
Dilated cardiomyopathy
Dilated cardiomyopathy & arrhythmias
Dilated cardiomyopathy & lactic acidosis
Dilated cardiomyopathy & ventricular tachycardia
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1AA
Dilated cardiomyopathy 1C
Dilated cardiomyopathy 1CC
Dilated cardiomyopathy 1D
Dilated cardiomyopathy 1DD
Dilated cardiomyopathy 1E
Dilated cardiomyopathy 1EE
Dilated cardiomyopathy 1FF
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1GG
Dilated cardiomyopathy 1HH
Dilated cardiomyopathy 1I
Dilated cardiomyopathy 1J
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1LL
Dilated cardiomyopathy 1NN
Dilated cardiomyopathy 1O
Dilated cardiomyopathy 1P
Dilated cardiomyopathy 1R
Dilated cardiomyopathy 1S
Dilated cardiomyopathy 1X
Dilated cardiomyopathy 1Y
Dilated cardiomyopathy 1Z
Dilated cardiomyopathy 2B
Dilated cardiomyopathy OCD and suicidality
Dilated cardiomyopathy failure to thrive global developmental delay epilepsy & early death
Dilated cardiomyopathy sporadic
Dilated cardiomyopathy with arrhythmias
Dilated cardiomyopathy with unicuspid aortic valve
Dilated cardiomyopathy with woolly hair keratoderma & tooth agenesis
Dilated cardiomyopathy woolly hair keratoderma
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dilated left ventricle with mild skeletal abnormalities
Dilated/arrythmogenic cardiomyopathy
Dimelia attenuated
Dimethylglycine dehydrogenase deficienc
Dimethylglycine dehydrogenase deficiency
Diminished calcium response
Diminished catalytic activity
Diminished enzyme activity
Diminished ovarian reserve
Disc degeneration
Discoid lupus rash
Disease of immune dysregulation
Disease or disorder
Disorder of Müllerian development
Disorder of androgen synthesis
Disorder of androgen synthesis or action
Disorder of golgi homeostasis
Disorder of sex development
Disorder of sexual development
Disorder of sexual development in males
Disorder of testis
Disordered steroidogenesis
Disorders of sex development
Disproportionate tall stature
Disrupted O Linked glycosylation
Disrupted meiotic recombination
Disrupted spermatogenesis
Dissections of extracranial arteries
Disseminated Rhodococcus infection
Disseminated coccidioidomycosis
Disseminated histoplasmosis
Disseminated mucormycosis
Disseminated superficial actinic porokeratosis
Disseminated superficial actinic porokeratosis with porokeratosis ptychotropica
Disseminated superficial porokeratosis
Distal acroosteolysis poikiloderma and joint stiffness
Distal anterior phenotype
Distal arthrogryposis
Distal arthrogryposis mild
Distal arthrogryposis syndrome 1
Distal arthrogryposis syndrome 2a
Distal arthrogryposis syndrome 2b
Distal arthrogryposis syndrome 7
Distal arthrogryposis type 2B1
Distal arthrogryposis type 5D
Distal arthrogryposis type I
Distal arthrogryposis type II
Distal arthrogryposis type IIA
Distal contractures and cardiac valve abnormality
Distal motor neuropathy
Distal motor neuropathy / Charcot Marie Tooth disease type 2
Distal motor neuropathy and hyperreflexia
Distal muscle weakness
Distal muscle weakness polyneuropathy and atrophy of lower legs
Distal myopathy
Distal myopathy & core like features
Distal myopathy & thrombocytopaenia
Distal myopathy adolescent onset
Distal myopathy with cachexia
Distal myopathy with nemaline rods
Distal myopathy with posterior leg and anterior hand involvement
Distal renal tubular acidosis
Distal renal tubular acidosis and sensorineural deafness early onset
Distal renal tubular acidosis autosomal recessive
Distal renal tubular acidosis with sensorineural hearing loss
Distal shortening of limbs
Distal spinal muscular atrophy
Distal spinal muscular atrophy adult onset
Distal spinal muscular atrophy and arthrogryposis
Distal titinopathy
Distichiasis-lymphedema syndrome
Distinct facial features skeletal & neurological abnormalities & umbilical hernia
Disturbed ossification of the skull & multiple fractures
Diurnal preference
Diurnal preference traits
Diverticulitis
Dolichol kinase congenital disorder of glycosylation
Dolichol kinase deficiency
Dombrock blood group variation
Dominant dystrophic epidermolysis bullosa with absence of skin
Donnai Barrow syndrome
Donnai Barrow syndrome with hypercalciuria & nephrolithiasis
Donnai-Barrow syndrome
Donohue syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Dopamine beta hydroxylase deficiency
Dopamine transporter deficiency syndrome
Double cortex syndrome
Double outlet right ventricle
Dowling Degos disease
Dowling-Degos disease 4
Downregulates activity of DHPR and affects skeletal muscle excitation contraction coupling
Drash syndrome
Dravet like syndrome
Dravet like syndrome / epileptic encephalopathy
Dravet syndrome
Dravet syndrome and generalised epilepsy with febrile seizures
Dravet syndrome late onset
Dravet syndrome modifier
Drug abuse
Drug addiction
Drug resistent seizures and neurological regression
Drug/alcohol abuse
Drusen basal laminar
Dry skin / eczema
DuPan syndrome
Duane radial ray syndrome
Duane retraction syndrome
Duane retraction syndrome 2
Duane-radial ray syndrome
Dubin Johnson syndrome
Dubin-Johnson syndrome
Dubowitz like syndrome
Duch blood group
Duchenne muscular dystrophy
Duchenne muscular dystrophy, intellectual disability, and absence of erg b-wave
Ductal breast carcinoma
Ductus arteriosus aneurysm
Duffy blood group antigen absence
Duffy blood group variation
Duodenal atresia asplenia & absence of gall bladder
Dursun syndrome
Dusty core disease
Dwarfism facial dysmorphia and cranial asymmetry
DyNC1H1 related disorder
Dyggve Melchior Clausen syndrome
Dyggve-Melchior-Clausen syndrome
Dysalbuminaemic hyperthyroxinaemia familial
Dysarthria ataxia and cervical dystonia
Dysarthria ataxia and sensory neuropathy
Dysarthria dystonia spastic paraparesis and seizure
Dysarthria gait disturbance and right side weakness
Dysautonomia familial
Dyschondrosteosis
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis hereditaria
Dyschromatosis universalis hereditaria 1
Dyschromatosis universalis hereditaria 3
Dysembryoplastic neuroepithelial tumour
Dysequilibrium syndrome
Dyseryhthropoietic anaemia
Dyserythropoietic anaemia
Dyserythropoietic anaemia and thrombocytopaenia
Dyserythropoietic anaemia/sideroblastic anaemia
Dyserythropoietic anemia with thrombocytopenia
Dysferlinopathy
Dysferlinopathy proximodistal
Dysfibrinogenaemia
Dysfibrinogenemia
Dysgammaglobulinaemia
Dysgammaglobulinaemia and autoimmune disease
Dysimmune disorder
Dyskeratosis congenita
Dyskeratosis congenita / Hoyeraal Hreidarsson syndrome
Dyskeratosis congenita / aplastic anaemia
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita cryptic
Dyskeratosis congenita like syndrome
Dyskeratosis congenita with pulmonary fibrosis
Dyskeratosis congenita with severe telemore shortening
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal dominant 2
Dyskeratosis congenita, autosomal dominant 3
Dyskeratosis congenita, autosomal dominant, 4
Dyskeratosis congenita, autosomal recessive 1
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 5
Dyskeratosis congenita, autosomal recessive 6
Dyskinesia
Dyskinesia ADCY5 related
Dyskinesia paroxysmal
Dyskinesia with facial myokymia
Dyskinesia, limb and orofacial, infantile-onset
Dyskinetic movement disorder
Dyskinetic movement disorder motor delay & cognitive impairment
Dyslexia
Dyslipidaemia
Dyslipidaemia and colorectal cancer
Dyslipidaemia atherogenic
Dyslipidaemia risk
Dysmorphic features
Dysmorphic features & developmental delay
Dysmorphic features increased nuchal translucency microcephaly & hypospadias
Dysmorphic features seizures & hypotonia
Dysmorphic/Dysplasia
Dysmorphism
Dysmorphism & skeletal deformity
Dysmorphism seizures developmental delay cataracts & early death
Dysmorphy truncal hypotony opistotonus hypotrophy cholestasis lipid storage myopathy & mult. resp. chain complex defic.
Dysosteosclerosis
Dysphagia
Dysplasia arrhythmogenic right ventricular
Dysplasia of the sperm fibrous sheath
Dysplasminogenemia
Dysplastic corpus callosum
Dysplastic leukoencephalopathy and defective mitochondrial DNA translation
Dysplastic megalencephaly
Dysplastic spondylolysis
Dyspnea and low O2 saturation
Dyspnea progressive
Dysprothrombinaemia
Dyssegmental dysplasia Silverman Handmaker type
Dysspondyloenchondromatosis
Dysspondyloenchondromatosis / spondyloepimetaphyseal dysplasia Strudwick type
Dystonia
Dystonia 12
Dystonia 16
Dystonia 24
Dystonia 25
Dystonia 28, childhood-onset
Dystonia 30
Dystonia 33
Dystonia 34, myoclonic
Dystonia 4
Dystonia 5
Dystonia 6
Dystonia 9
Dystonia L DOPA responsive
Dystonia Laryngeal
Dystonia adult onset
Dystonia and paroxysmal attacks
Dystonia ataxia syndrome with permanent torsional nystagmus
Dystonia cerebellar atrophy & cardiomyopathy
Dystonia cervical
Dystonia cranio cervical
Dystonia dopa responsive
Dystonia dopa responsive autosomal dominant
Dystonia dopa responsive with short stature
Dystonia dysmorphism encephalopathy with developmental delay brain abnormalities without hemiplegia neonatal onset
Dystonia early onset
Dystonia focal
Dystonia generalised
Dystonia generalised and basal ganglia lesions
Dystonia generalised childhood onset
Dystonia generalised early onset
Dystonia hypertonia spasticity speech delay basal ganglia abnormalities
Dystonia hypotonia & intellectual disability
Dystonia idiopathic isolated
Dystonia jaw opening
Dystonia juvenile onset/Baraitser Winter syndrome
Dystonia lower limb and generalized sensory neuropathy
Dystonia lower limb and neuromuscular weakness
Dystonia multifocal
Dystonia myoclonus
Dystonia of soft palate
Dystonia parkinsonism
Dystonia parkinsonism adult onset levodopa responsive
Dystonia parkinsonism autosomal recessive
Dystonia parkinsonism early onset
Dystonia parkinsonism infantile
Dystonia parkinsonism rapid onset
Dystonia parkinsonism with diplopia
Dystonia paroxysmal exercise induced
Dystonia primary adult onset
Dystonia primary torsion
Dystonia progressive
Dystonia progressive generalised childhood onset & axonal peripheral neuropathy
Dystonia segmental
Dystonia spasticity & Parkinsonism
Dystonia torsion autosomal dominant/Leukodystrophy hypomyelinating
Dystonia with childhood tremor and myoclonus
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Dystonia, intellectual disability and language impairment
Dystonic disorder
Dystroglycanopathy
Dystrophinopathy
EAST syndrome
EDMD related myopathy
EEC syndrome
EEC syndrome without clefting
EEC/AEC like syndrome
EEM syndrome
EMARDD
EMG: myopathic abnormalities
EMG: neuropathic changes
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA
EVEN PLUS syndrome
Ear malformation
Ear malformation Facial dysmorphism
Earlier onset in Huntington disease
Earlier onset of Alzheimer disease
Early T cell progenitor acute lymphoblastic leukemia
Early embryonic arrest
Early generalised epilepsy
Early infancy onset stimulation induced myoclonic seizures in glycosylphosphatidylinositol anchor deficiency
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy hypsarythmia and refux
Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy/Ohtahara syndrome
Early menopause
Early myoclonic encephalopathy
Early onset Alzheimer disease with behavioral disturbance
Early onset alzheimer disease risk
Early onset epilepsy & microcephaly capillary malformation syndrome
Early onset epileptic encephalopathy
Early onset glomerulopathy
Early onset in Wilson disease
Early onset infantile spasms & supratentorial cerebral malformation
Early onset paroxysmal dyskinesia and developmental delay
Early onset progressive encephalopathy with distal spinal muscular atrophy
Early pregnancy modifier of
Early repolarization syndrome
Early teeth loss with Wagner syndrome
Early-onset Lafora body disease
Early-onset Parkinson disease 20
Early-onset myopathy with fatal cardiomyopathy
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Earwax type
Eating disorders
Ebstein anomaly
Ebstein anomaly / left ventricular noncompaction
Ebstein anomaly left ventricular noncompaction & heart failure early onset
Ebstein anomaly left ventricular noncompaction and ventricular septal defect
Eccentric core disease
Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis
Ectodermal derivative impairment
Ectodermal dyplasia hair nail type
Ectodermal dysplasia
Ectodermal dysplasia & oligodontia
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Ectodermal dysplasia 13, hair/tooth type
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ectodermal dysplasia and immunodeficiency 1
Ectodermal dysplasia and immunodeficiency 2
Ectodermal dysplasia anhidrotic with immune deficiency
Ectodermal dysplasia hair nail type
Ectodermal dysplasia hypohidrotic
Ectodermal dysplasia hypohidrotic & inability to sweat
Ectodermal dysplasia syndactyly syndrome
Ectodermal dysplasia syndrome
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Ectodermal dysplasia with immune deficiency
Ectodermal dysplasia with immunodeficiency
Ectodermal dysplasia with immunodeficiency & severe noninfectious systemic inflammation
Ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
Ectodermal dysplasia-syndactyly syndrome 1
Ectopia lentis
Ectopia lentis & varicose great saphenous vein
Ectopia lentis 1, isolated, autosomal dominant
Ectopia lentis isolated form
Ectopia pupillae
Ectopis lentis bilateral
Ectrodactyly
Ectrodactyly and acinar dysplasia
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Eczema atopic
Eczema severe
Effort-induced polymorphic ventricular tachycardia
Ehlers Danlos like syndrome
Ehlers Danlos syndrome
Ehlers Danlos syndrome & heterotopia periventricular
Ehlers Danlos syndrome II
Ehlers Danlos syndrome III
Ehlers Danlos syndrome IV
Ehlers Danlos syndrome Kosho type
Ehlers Danlos syndrome VI
Ehlers Danlos syndrome VII
Ehlers Danlos syndrome VIa kyphoscoliotic type
Ehlers Danlos syndrome autosomal recessive
Ehlers Danlos syndrome hypermobility type
Ehlers Danlos syndrome hypermobility type/Benign joint hypermobility syndrome
Ehlers Danlos syndrome kyphoscoliotic
Ehlers Danlos syndrome like
Ehlers Danlos syndrome musculocontractural
Ehlers Danlos syndrome myopathic
Ehlers Danlos syndrome periodontal
Ehlers Danlos syndrome progeroid type
Ehlers Danlos syndrome spondylodysplastic form type 3
Ehlers Danlos syndrome spondylodysplastic type
Ehlers Danlos syndrome vascular type
Ehlers Danlos syndrome vascular type with intestinal involvement
Ehlers Danlos syndrome with lethal arterial events
Ehlers Danlos syndrome with superior mesenteric artery aneurism
Ehlers Danlos syndrome with vascular events
Ehlers Danlos syndrome/Osteogenesis imperfecta
Ehlers Danlos syndrome/Osteogenesis imperfecta modifier of
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome, arthrochalasis type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, classic type, 1
Ehlers-Danlos syndrome, classic type, 2
Ehlers-Danlos syndrome, dermatosparaxis type
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type 1
Ehlers-Danlos syndrome, musculocontractural type 2
Ehlers-Danlos syndrome, periodontal type 2
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ehlers-Danlos syndrome, type 4
Ehlers-danlos syndrome, arthrochalasia type, 2
Eichsfeld type congenital muscular dystrophy
Eiken skeletal dysplasia
Eiken skeletal dysplasia with pseudoepiphyses in the hands and primary failure of tooth eruption
Electron transfer flavoprotein deficiency
Elevated 3 hydroxyisovalerylcarnitine / 3 methylcrotonylglycine levels
Elevated DNase activity
Elevated HDL cholesterol
Elevated IgE eosinophilic esophagitis joint hypermobility & vascular anomalies
Elevated SERT activity
Elevated basal serum calcitonin
Elevated circulating creatine kinase concentration
Elevated circulating pigment epithelium derived factor (PEDF) levels
Elevated creatine kinase levels
Elevated extracellular SOD association
Elevated fasting plasma glucose association in NIDDM
Elevated liver transaminases & multisystemic features
Elevated mean arterial pressure
Elevated plasma fibrinogen levels
Elevated plasma lipid concentration association in diabetes
Elevated red cell ATP
Elevated tAFI AP levels
Elevated transaminases
Elevated tyrosine levels
Elevated urinary copper
Elevated waist to hip ratio
Elliptical anterior iris stromal defects
Elliptocytosis
Elliptocytosis 1
Elliptocytosis 2
Elliptocytosis 3
Ellis van Creveld syndrome
Ellis van Creveld syndrome without lip/nail/dental abnormalities
Ellis-van Creveld syndrome
Emberger syndrome
Emery Dreifuss muscular dystrophy
Emery Dreifuss muscular dystrophy associated with hypertophic cardiomyopathy
Emery Dreifuss muscular dystrophy modifier of
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 6
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Emphysema early onset
Emphysema susceptibility to
Empty follicle syndrome
Empty follicle syndrome and abnormal zona pellucida
Enamel defects
Enamel renal syndrome
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Encephalocardiomyopathy neonatal
Encephalocardiomyopathy with sensorineural hearing loss
Encephalocele
Encephalocraniocutaneous lipomatosis
Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria
Encephalomyopathy
Encephalomyopathy & isolated mitochondrial complex II deficiency
Encephalomyopathy & mitochondrial DNA depletion
Encephalomyopathy childhood onset & stroke like episodes
Encephalomyopathy without mitochondrial DNA depletion
Encephalopathy
Encephalopathy & epilepsy
Encephalopathy & hyperekplexia
Encephalopathy abnormal movements deafness & axonal neuropathy
Encephalopathy acute febrile
Encephalopathy acute necrotising
Encephalopathy acute necrotising type I
Encephalopathy and microcephaly
Encephalopathy and myoclonic epilepsy
Encephalopathy and spastic paraparesis
Encephalopathy cardiomyopathy respiratory failure complex I deficiency and complex IV deficiency
Encephalopathy childhood
Encephalopathy due to GLUT1 deficiency
Encephalopathy due to prosaposin deficiency
Encephalopathy early infantile
Encephalopathy early infantile lethal
Encephalopathy early infantile with epilepsy
Encephalopathy early myoclonic
Encephalopathy early onset
Encephalopathy early onset and atypical Rett syndrome
Encephalopathy early onset epilepsy and dystonic fits
Encephalopathy epileptic
Encephalopathy epileptic dyskinetic
Encephalopathy ethylmalonic
Encephalopathy familial
Encephalopathy hepatic failure Leigh syndrome & complex I deficiency
Encephalopathy infantile
Encephalopathy infantile autosomal recessive
Encephalopathy infantile onset
Encephalopathy influenza associated
Encephalopathy intellectual disability severe hypotonia chorea and optic atrophy
Encephalopathy lactic acidosis & OXPHOS defects
Encephalopathy lethal
Encephalopathy lethal due to defective m peroxisomal fission
Encephalopathy muscular weakness seizures respiratory distress & lack of psychomotor development
Encephalopathy neonatal
Encephalopathy neonatal with seizures
Encephalopathy progressive autosomal recessive
Encephalopathy progressive early onset with brain atrophy and thin corpus callosum
Encephalopathy recurrent
Encephalopathy severe early infantile
Encephalopathy severe early onset
Encephalopathy severe early onset with optic atrophy
Encephalopathy severe infantile syndromic
Encephalopathy severe neonatal
Encephalopathy severe progressive
Encephalopathy with cerebral calcification
Encephalopathy with early epilepsy
Encephalopathy with early onset epilepsy
Encephalopathy with growth and developmental retardation
Encephalopathy with late onset epilepsy
Encephalopathy with reversible myelin vacuolization
Encephalopathy with seizures
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Encephalopathy, progressive, with amyotrophy and optic atrophy
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
End stage renal disease
Endocardial cushion defect
Endocrine cerebro osteodysplasia
Endocrine related disease
Endocrine-cerebro-osteodysplasia syndrome
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
Endometrial cancer
Endometrial cancer in Lynch syndrome
Endometrial cancer modified risk in Lynch syndrome
Endometrial cancer risk
Endometrial carcinoma
Endometrial neoplasm
Endometrioid endometrial carcinoma
Endometriosis
Endosteal hyperostosis
Endothelial dystrophy
Endotoxin exposure in asthma
Endplate acetylcholinesterase deficiency
Enhanced 5 HT transport activity
Enhanced S cone syndrome
Enhanced S-cone syndrome
Enhanced catalytic activity
Enhanced expression of alternative promoter
Enhanced function
Enhanced intracellular degradation
Enhanced metabolic efficiency
Enhanced oncogenic activity of Ser891Ala
Enhanced repair capacity
Enlarged kidney
Enlarged parietal foramina
Enlarged vestibular aqueduct
Enlarged vestibular aqueduct & Mondini dysplasia
Enlarged vestibular aqueduct & vestibular dilatation
Enteric anendocrinosis
Enterocolitis & autoinflammation
Enterocolitis early onset
Enterokinase deficiency
Enteropathy chronic
Enteropathy chronic with hypertrophic osteoarthropathy primary
Enterovirus 71 infection
Eosinophil peroxidase deficiency
Eosinophilic esophagitis
Ependymoma
Ephelides increased risk
Epidermal naevus with underlying overgrowth
Epidermal nevus
Epidermodysplasia verruciformis
Epidermodysplasia verruciformis susceptibility in HIV association
Epidermolysis bullosa
Epidermolysis bullosa Dowling Meara
Epidermolysis bullosa Herlitz
Epidermolysis bullosa Hypothyroidism MCKD Mild gross motor delay Sepsis
Epidermolysis bullosa Koebner
Epidermolysis bullosa Weber Cockayne
Epidermolysis bullosa atrophic benign
Epidermolysis bullosa autosomal dominant
Epidermolysis bullosa dystrophic
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica Pasini type
Epidermolysis bullosa dystrophica intermediate
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Epidermolysis bullosa dystrophica inversus type
Epidermolysis bullosa dystrophica nails only
Epidermolysis bullosa dystrophica pretibial
Epidermolysis bullosa dystrophica recessive
Epidermolysis bullosa dystrophica recessive intermediate
Epidermolysis bullosa dystrophica recessive pruriginosa
Epidermolysis bullosa dystrophica self improving
Epidermolysis bullosa dystrophica with amniotic band syndrome
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Epidermolysis bullosa junctional
Epidermolysis bullosa junctional intermediate
Epidermolysis bullosa junctional localised
Epidermolysis bullosa junctional with pyloric atresia
Epidermolysis bullosa junctional without pyloric atresia
Epidermolysis bullosa modifier of
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa pruriginosa, autosomal dominant
Epidermolysis bullosa pruriginosa, autosomal recessive
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex 1A, generalized severe
Epidermolysis bullosa simplex 1C, localized
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Epidermolysis bullosa simplex 2B, generalized intermediate
Epidermolysis bullosa simplex intermediate
Epidermolysis bullosa simplex localized
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with verrucous carcinoma
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa without pyloric atresia
Epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis with palmoplantar hyperkeratosis & digit contractures
Epidermolytic ichthyosis
Epidermolytic ichthyosis annular
Epidermolytic palmoplantar keratoderma
Epilepsia partialis alternating hemiplegia and paroxysmal torticollis
Epilepsy
Epilepsy & developmental abnormalities
Epilepsy & developmental delay
Epilepsy & intellectual disability
Epilepsy & mental retardation
Epilepsy & neurodevelopmental abnormalities
Epilepsy & neurodevelopmental delay
Epilepsy ADHD & psychomotor delay
Epilepsy Fine/Gross motor delay Learning disability
Epilepsy and autism spectrum disorder
Epilepsy and mental retardation
Epilepsy and mental retardation limited to females
Epilepsy and mild pachygyria
Epilepsy and myoclonic jerks
Epilepsy and sleep dysregulation
Epilepsy and/or neurodevelopmental disorders
Epilepsy aphasia
Epilepsy aphasia syndrome
Epilepsy aphasia with febrile seizures plus
Epilepsy ataxia sensorineural deafness and tubulopathy
Epilepsy ataxia syndrome
Epilepsy autism spectrum disorder and global developmental delay
Epilepsy benign infantile
Epilepsy benign infantile offset
Epilepsy benign infantile with supraventricular tachycardia
Epilepsy benign neonatal
Epilepsy benign neonatal infantile
Epilepsy childhood absence
Epilepsy childhood absence with febrile seizures
Epilepsy childhood onset
Epilepsy childhood onset and progressive cerebral ataxia
Epilepsy choreoathetosis & mental retardation X linked
Epilepsy cryptogenic paediatric partial
Epilepsy developmental delay and sleep dysregulation
Epilepsy developmental delay autism and sleep dysregulation
Epilepsy drug resistant
Epilepsy early onset
Epilepsy episodic prolonged apnea and postnatal microcephaly
Epilepsy failure to thrive & autism
Epilepsy familial focal with variable foci
Epilepsy familial temporal lobe
Epilepsy female
Epilepsy focal
Epilepsy focal idiopathic
Epilepsy focal symptomatic
Epilepsy focal with speech disorder
Epilepsy focal/multifocal
Epilepsy generalised
Epilepsy generalised and tonic clonic seizures
Epilepsy generalised with developmental delay and intellectual disability
Epilepsy generalised with febrile seizures
Epilepsy generalized
Epilepsy generalized with intellectual disability
Epilepsy global developmental delay & microcephaly
Epilepsy idiopathic
Epilepsy idiopathic generalised
Epilepsy idiopathic generalised with febrile seizures plus
Epilepsy infantile
Epilepsy infantile onset
Epilepsy infantile onset & abnormal brain morphology
Epilepsy infantile onset & developmental delay
Epilepsy intellectual disability & autism spectrum disorder
Epilepsy intellectual disability and macrocephaly
Epilepsy intellectual disability and mild gingival and nail abnormalities
Epilepsy intermediate
Epilepsy intractable
Epilepsy juvenile myoclonic
Epilepsy lateral temporal
Epilepsy lateral temporal autosomal dominant
Epilepsy lateral temporal lobe autosomal dominant
Epilepsy limited to females
Epilepsy mental retardation short stature growth hormone deficiency and hypogonadism
Epilepsy mild language retardation strabismus mild ataxia joint hyperlaxity & generalised hyperreflexia
Epilepsy myoclonic
Epilepsy neonatal
Epilepsy neonatal onset
Epilepsy neonatal with episodic ataxia late onset
Epilepsy nocturnal frontal lobe
Epilepsy nocturnal frontal lobe & distinct memory deficits
Epilepsy nocturnal frontal lobe 5/Epileptic encephalopathy early infantile 14
Epilepsy nocturnal frontal lobe/Epileptic encephalopathy early infantile
Epilepsy nonlesional
Epilepsy of infancy with migrating focal seizures
Epilepsy paediatric
Epilepsy parkinsonism psychosis & intellectual disability
Epilepsy partial and myokymia
Epilepsy partial with auditory features
Epilepsy partial with telephone induced seizures
Epilepsy photosensitive
Epilepsy photosensitive generalised
Epilepsy progressive myoclonic
Epilepsy progressive myoclonus
Epilepsy progressive with mental retardation
Epilepsy pyridoxine dependent
Epilepsy refractory juvenile onset
Epilepsy refractory juvenile onset and progressive myoclonus
Epilepsy related seizure resistance to
Epilepsy risk
Epilepsy rolandic
Epilepsy rolandic & benign neonatal convulsions
Epilepsy rolandic without neonatal seizures
Epilepsy symptomatic reduced risk
Epilepsy syndromic
Epilepsy tonic clonic
Epilepsy ultra refractory
Epilepsy vitamin B6 dependent
Epilepsy vitamin B6 responsive
Epilepsy with auditory features
Epilepsy with febrile seizures plus
Epilepsy with febrile seizures plus & Dravet syndrome
Epilepsy with generalized tonic clonic seizures alone
Epilepsy with hippocampal sclerosis
Epilepsy with myoclonic absences intellectual disability language disorder & autism
Epilepsy with myoclonic atonic seizures
Epilepsy with myoclonic atonic seizures and mild intellectual disability
Epilepsy with myoclonic atonic seizures and mild to moderate intellectual disability
Epilepsy with myoclonic seizures
Epilepsy with nocturnal wandering and ictal fear
Epilepsy with polymicrogyria
Epilepsy with progressive encephalopathy and cortical atrophy
Epilepsy with typical absence seizures
Epilepsy with/without neurodevelopmental delay
Epilepsy, childhood absence 2
Epilepsy, childhood absence 4
Epilepsy, childhood absence, susceptibility to, 1
Epilepsy, childhood absence, susceptibility to, 5
Epilepsy, early-onset, vitamin B6-dependent
Epilepsy, early-onset, with or without developmental delay
Epilepsy, familial focal, with variable foci 1
Epilepsy, familial focal, with variable foci 2
Epilepsy, familial focal, with variable foci 3
Epilepsy, familial focal, with variable foci 4
Epilepsy, familial temporal lobe, 1
Epilepsy, idiopathic generalized, susceptibility to, 11
Epilepsy, idiopathic generalized, susceptibility to, 12
Epilepsy, idiopathic generalized, susceptibility to, 13
Epilepsy, progressive myoclonic 2b
Epilepsy, progressive myoclonic, 1B
Epilepsy, progressive myoclonic, 3, with intracellular inclusions
Epileptic encephalopathies
Epileptic encephalopathies neonatal onset
Epileptic encephalopathy
Epileptic encephalopathy Angelman like
Epileptic encephalopathy & complex movement disorder
Epileptic encephalopathy & intellectual disability
Epileptic encephalopathy & severe intellectual disability
Epileptic encephalopathy Lennox-Gastaut type
Epileptic encephalopathy WWOX related
Epileptic encephalopathy abnormal EEG & developmental delay
Epileptic encephalopathy abnormal EEG & other Ohtahara syndrome features
Epileptic encephalopathy and dyskinesia
Epileptic encephalopathy and dysmorphic corpus callosum
Epileptic encephalopathy and intellectual disability
Epileptic encephalopathy atypical rolandic epilepsy dysphasia
Epileptic encephalopathy atypical rolandic epilepsy verbal dyspraxia
Epileptic encephalopathy childhood onset
Epileptic encephalopathy developmental
Epileptic encephalopathy developmental delay intellectual disability movement disorder cerebellar atrophy & ataxia
Epileptic encephalopathy early infantile
Epileptic encephalopathy early infantile & neurodevelopmental delay
Epileptic encephalopathy early infantile 1/Lissencephaly X linked 2/Partington syndrome/Proud syndrome
Epileptic encephalopathy early infantile 11
Epileptic encephalopathy early infantile 17
Epileptic encephalopathy early infantile 2
Epileptic encephalopathy early infantile 29
Epileptic encephalopathy early infantile 50
Epileptic encephalopathy early infantile 9
Epileptic encephalopathy early infantile type 57
Epileptic encephalopathy early infantile with developmental arrest
Epileptic encephalopathy early infantile with movement disorder
Epileptic encephalopathy early infantile with psychomotor delay & divergent strabismus
Epileptic encephalopathy early infantile/Epilepsy idiopathic generalized susceptibility to
Epileptic encephalopathy early infantile/Seizures benign familial infantile
Epileptic encephalopathy early myoclonic
Epileptic encephalopathy early onset
Epileptic encephalopathy early onset with bronchopulmonary dysplasia & adrenal hypofunction
Epileptic encephalopathy early onset with burst suppression
Epileptic encephalopathy early onset with involuntary movements developmental delay & intellectual disability
Epileptic encephalopathy early onset with progressive cerebellar & optic nerve atrophy
Epileptic encephalopathy early onset with severe developmental delay
Epileptic encephalopathy infantile
Epileptic encephalopathy infantile & cognitive impairment
Epileptic encephalopathy infantile type 42
Epileptic encephalopathy infantile with global developmental delay
Epileptic encephalopathy intellectual disability & spasticity
Epileptic encephalopathy multiple congenital anomalies and movement disorders
Epileptic encephalopathy neonatal
Epileptic encephalopathy neonatal and foetal anaemia
Epileptic encephalopathy nonsyndromic
Epileptic encephalopathy severe infantile
Epileptic encephalopathy type 7
Epileptic encephalopathy unclassified
Epileptic encephalopathy uridine responsive
Epileptic encephalopathy with Lennox Gastaut syndrome
Epileptic encephalopathy with autism spectrum disoder
Epileptic encephalopathy with cerebellar atrophy
Epileptic encephalopathy with cleft palate
Epileptic encephalopathy with infantile spasms
Epileptic encephalopathy with infantile spasms & focal epilepsy
Epileptic encephalopathy with persistent myelination defect
Epileptic encephalopathy with skeletal defects
Epileptic encephalopathy with tonic spasms & focal dyscognitive seizures
Epileptic encephalopathy, infantile or early childhood, 1
Epileptic encephalopathy, infantile or early childhood, 2
Epileptic encephalopathy, infantile or early childhood, 3
Epileptic seizures intellectual disability & dysmorphic features
Epileptic spasms late onset
Epilepticus of slow wave sleep
Epiphyseal dysplasia multiple with myopia and deafness
Epiphyseal dysplasia of the femoral head
Epiphyseal dysplasia, multiple, 1, severe
Episodic ataxia
Episodic ataxia / myokymia
Episodic ataxia 1
Episodic ataxia 1 and neurodevelopmental anomalies
Episodic ataxia 2
Episodic ataxia 6
Episodic ataxia exercise induced
Episodic ataxia global developmental delay and migraine
Episodic ataxia type 1
Episodic ataxia type 2
Episodic ataxia type 6
Episodic ataxia with cerebellar dysfunction & cognitive delay
Episodic ataxia, type 9
Episodic ataxia/hemiplegia/seizures
Episodic jaundice
Episodic kinesigenic dyskinesia
Episodic kinesigenic dyskinesia 1
Episodic laryngospasm severe neonatal
Episodic muscle paralysis
Episodic pain syndrome
Episodic paralyses and myotonic discharges
Episodic seizures ataxia and migraine with motor regression
Epistaxis
Epistaxis and telangiectasia
Epistaxis recurrent
Epithelial basement membrane dystrophy
Epithelial inflammation
Epithelial recurrent erosion dystrophy
Epoxide hydrolase deficiency
Epstein Barr virus associated lymphoproliferative disorder
Epstein syndrome
Epstein/Fechtner syndrome
Erythrocyte AMP deaminase deficiency
Erythrocyte band 3 deficiency
Erythrocyte lactate transport deficiency
Erythrocyte sedimentation rate
Erythrocytosis
Erythrocytosis & pulmonary arterial hypertension
Erythrocytosis and paraganglioma
Erythrocytosis familial 3
Erythrocytosis idiopathic
Erythrocytosis with megakaryocytic atypia
Erythrocytosis, familial, 3
Erythrocytosis, familial, 4
Erythrocytosis, familial, 6
Erythrocytosis, familial, 7
Erythroderma failure to thrive recurrent infections and brain lesions
Erythrodermic psoriasis
Erythroid myelodysplastic syndrome/erythroleukaemia
Erythrokeratoderma
Erythrokeratoderma progressive symmetric
Erythrokeratodermia and cardiomyopathy
Erythrokeratodermia progressive symmetric
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis et progressiva
Erythrokeratodermia variabilis et progressiva 1
Erythrokeratodermia variabilis et progressiva 2
Erythrokeratodermia variabilis et progressiva 3
Erythrokeratodermia variabilis et progressiva 4
Erythrokeratodermia variabilis et progressiva 6
Erythrokeratodermia variabilis et progressiva 7
Erythromelalgia
Erythromelalgia late onset
Erythromelalgia like pain
Erythromelalgia primary
Erythromelalgia primary with wintry hypothermia & encephalopathy
Escobar syndrome
Esophageal atresia
Esophageal carcinoma, somatic
Esophageal squamous cell carcinoma
Esophageal squamous cell carcinoma increased risk
Esophageal squamous cell carcinoma predisposition
Esophageal squamous cell carcinoma, somatic
Essential fructosuria
Essential hypertension
Essential hypertension protection in low risk individials
Essential thrombocythemia
Essential tremor
Essential tremor early onset
Estrogen resistance syndrome
Ethylmalonic aciduria
Ethylmalonic encephalopathy
Euthyroid hyperthyroxinaemia
Evans syndrome
Even-plus syndrome
Ewing sarcoma modifier of
Exaggerated startle response
Exanthematous pustulosis acute generalized
Exceptional longevity
Excessive daytime sleepiness
Exercise intolerance
Exercise intolerance myalgia & rhabdomyolysis
Exercise intolerance riboflavin responsive
Exercise intolerance, riboflavin-responsive
Exertional heat illness
Exertional myalgia and/or rhabdomyolysis
Exertional rhabdomyolysis recurrent
Exfoliation glaucoma protection against
Exfoliative ichthyosis
Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency and calvarial hyperostosis
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Exostosin 2 related syndrome
Expression of allergic symptoms
External Ophthalmoplegia Rib and Vertebral Anomalies
External ophthalmoplegia
Extraadrenal paraganglial tumours
Extracellular matrix related myopathy
Extraoral halitosis
Extraoral halitosis due to methanethiol oxidase deficiency
Extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Exudative retinopathy
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 2, X-linked
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 4, autosomal dominant
Exudative vitreoretinopathy 4, autosomal recessive
Exudative vitreoretinopathy 4, digenic
Exudative vitreoretinopathy 5
Exudative vitreoretinopathy 6
Exudative vitreoretinopathy, X-linked
Eye / skeletal anomalies
Eye abnormalities ataxia hypotonia seizures & developmental delay
Eye anomalies and intellectual disability
Eye defects
Eye development defects
Eye developmental anomalies autosomal dominant
Eye developmental anomalies autosomal recessive
Eye disorder
Eye intellectual disability syndrome
Eye malformations increased risk
Eyelid myoclonia with absences
Ezetimibe non response
FADD deficiency
FADD-related immunodeficiency
FAUNDES-BANKA SYNDROME
FBXL4 deficiency
FG syndrome
FG syndrome 1
FG syndrome 4
FGFR2 related craniosynostosis
FGFR2-related bent bone dysplasia
FJHN/MCKD syndrome
FLNB-Related Disorders
FMO1 variant
FMO2 variant
FMO3 variant
FMO4 variant
FMO5 variant
FOXG1 syndrome
FOXN1 deficiency
FOXP1 syndrome
FRAXE
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FTT growth retardation/short stature developmental delay external ear malformation abnormal teeth dysmorphism hypertonia and seizures
Fabry disease
Fabry disease atypical variant
Fabry disease cardiac
Fabry disease late onset
Fabry disease, cardiac variant
Facial cleft
Facial dysmorphism Contractures Syndactyly Club foot Polyhydramnios Cystic hygroma/Increased NT
Facial dysmorphism Gross motor delay
Facial dysmorphism Macrocephaly Speech delay Developmental regression Congenital Heart Malformation Proximal radioulnar synostosis
Facial dysmorphism club foot syndactyly bilateral genu valgum telephalanges and tracheolaryngomalacia
Facial dysmorphism hypertrichosis epilepsy intellectual disability/developmental delay and gingival overgrowth
Facial dysmorphism hypotonia speech impairment constipation and intellectual disability
Facial dysmorphism immunodeficiency livedo & short stature
Facial dysmorphism lens dislocation anterior segment abnormalities & Traboulsi syndrome
Facial dysmorphism microcephaly skeletal features and short stature
Facial dysmorphism neurodevelopmental delay immunodeficiency autoinflammation and haemophagocytic lymphohistiocytosis
Facial dysmorphism scalp hypotrichosis & hypodontia
Facial dysmorphism with developmental delay
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Facial dysmorphisms
Facial onset sensory and motor neuronopathy syndrome
Facial palsy bilateral ptosis and velopharyngeal dysfunction
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
Facial paresis
Facial paresis, hereditary congenital, 3
Facial umbilical coccygeal & auditory anomalies
Facio bulbar and limb girdle muscle weakness
Facioaudiosymphalangism syndrome
Facioscapulohumeral dystrophy like phenotype
Facioscapulohumeral like muscular dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy 2
Facioscapulohumeral muscular dystrophy 4, digenic
Facioscapulohumeral muscular dystrophy modifier of severity
Facioscapuloperoneal myopathy
Factor 5 and Factor VIII, combined deficiency of, 2
Factor D deficiency
Factor H deficiency
Factor I deficiency
Factor V and Factor VIII deficiency combined
Factor V and factor VIII deficiency combined
Factor V deficiency
Factor VII deficiency
Factor VIII deficiency
Factor X deficiency
Factor X deficiency Riyadh type
Factor XI deficiency
Factor XII deficiency
Factor XIII A type II deficiency
Factor XIII deficiency
Factor XIII, A subunit, deficiency of
Factor XIII, b subunit, deficiency of
Failure to thrive
Failure to thrive Fine motor delay Gross motor delay Speech delay intellectual disability/ MR learning disability Hypotonia
Failure to thrive Fine/Gross motor delay Intellectual disability Autism spectrum disorder Brain atrophy Hypotonia Seizures Contractures Gastroesophageal reflux
Failure to thrive Fine/Gross motor delay Speech delay Intellectual disability Learning disability Developmental regression Hypotonia
Failure to thrive Global developmental delay Developmental regression Brian atrophy Epilepsy
Failure to thrive Gross motor delay Hypotonia
Failure to thrive Growth retardation Fine and gross motor delay Speech delay
Failure to thrive Growth retardation Fine/Gross motor delay Speech delay Intellectual disability ASD Seizures
Failure to thrive Growth retardation IUGR Speech delay cleft lip cardiomyopathy
Failure to thrive Growth retardation Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Learning disability Psychiatric problems ptosis Facial dysmorphism
Failure to thrive Growth retardation Speech delay Learning disability Global developmental delay Abnormal hair Ichthyosis Hypoplastic cerebellar vermis
Failure to thrive Microcephaly Fine/Gross motor delay Intellectual disability Learning disability Developmental regression Cerebral atrophy Spasticity
Failure to thrive Microcephaly Fine/Gross motor delay Speech delay Brain atrophy Hypotonia Muscle weakness
Failure to thrive Microcephaly Global developmental delay Developmental regression Brain atrophy Hypotonia Seizures Pneumonia recurrent aspiration
Failure to thrive Microcephaly Global developmental delay Polyhydramnios Skeletal anomalies Oxygen dependent
Failure to thrive Microcephaly Growth retardation Cleft lip/palate External ear malformation Absent uterus and vagina
Failure to thrive anemia/neutropenia/pancytopenia splenomegaly hepatomegaly
Failure to thrive developmental delay gastroesophageal reflux & musculoskeletal disorder
Failure to thrive epilepsy Fine motor delay seizures hypothyroid retinitis pigmentosa developmental delay hearing loss
Failure to thrive fine and gross motor delay hypotonia muscle weakness
Failure to thrive global developmental delay and regression motor delay and spasticity
Failure to thrive global developmental delay hypotonia seizures muscle weakness pneumonia severe laryngomalacia
Failure to thrive gross and fine motor delay speech delay
Failure to thrive gross motor and speech delay bilateral vocal cord paralysis and hypotonia
Failure to thrive growth retardation fine/gross motor delay speech delay intellectual disabilit Autistic features low set ear delay sexual maturation hypogonadism absent hair mentally subnormal
Failure to thrive growth retardation intellectual disability spasticity.
Failure to thrive growth retardation microcephaly fine and gross motor delay speech delay intellectual disability learning disability hypertelorism broad nasal bridge low hair line syndactyly
Failure to thrive growth retardation microcephaly motor and speech delay intellectual disability nystagmus spasticity
Failure to thrive growth retardation physical and speech delay squint nystagmus ataxia and hypotonia
Failure to thrive hearing loss hepatomegaly & pericardial effusion
Failure to thrive hepatomegaly and hyperlipidemia
Failure to thrive hypertriglyceridaemia devel. delay liver dysfunction lung cysts and abnormal subcortical white matter
Failure to thrive immunodeficiency and neurological difficulties
Failure to thrive lactic acidosis mitochondrial myopathy & hepatopathy
Failure to thrive microcephaly global developmental delay intellectual disability disability hypotonia seizures
Failure to thrive microcephaly gross and fine motor delay muscle weakness hypotonia spasticity
Failure to thrive microcephaly hypotonia contractures club foot
Failure to thrive microcephaly motor delay speech delay
Failure to thrive motor and speech delay learning disability autism leukomalacia ataxia dystonia contractures spastic paraplegia
Failure to thrive motor and speech delay thin corpus callosum hypotonia seizures muscle weakness
Failure to thrive motor delay & intellectual disability
Failure to thrive motor delay speech delay autistic features
Failure to thrive motor delay speech delay intellectual disability
Failure to thrive psychomotor delay & spastic ataxia gait with bilateral Babinski sign
Failure to thrive short stature motor/speech delay intellectual disability Learning disability Developmental regression brain atrophy abnormal basal ganglia dystonia hypotonia muscle weakness optic atrophy recurrent fever contractures
Fair hair
Fallopian tube cancer
Familial Diabetes mellitus
Familial Exudative Vitreoretinopathy
Familial Hypercholesterolemia
Familial Mediterranean fever
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial acute necrotizing encephalopathy
Familial adenomatous polyposis
Familial adenomatous polyposis 1
Familial advanced sleep phase
Familial advanced sleep phase syndrome
Familial amyloid nephropathy with urticaria AND deafness
Familial amyloid polyneuropathy, Iowa type
Familial aortopathy
Familial apolipoprotein C-II deficiency
Familial atrial fibrillation
Familial benign pemphigus
Familial cancer of breast
Familial cardiomyopathy
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 1
Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 3
Familial cold autoinflammatory syndrome 4
Familial colorectal cancer
Familial colorectal cancer type X
Familial colorectal cancer type X increased risk
Familial combined hyperlipidaemia
Familial combined hypolipidemia
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial digital arthropathy-brachydactyly
Familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
Familial dysfibrinogenemia
Familial dyskinesia and facial myokymia
Familial encephalopathy with neuroserpin inclusion bodies
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy & high myopia
Familial exudative vitreoretinopathy & retinal detachment
Familial exudative vitreoretinopathy and microcephaly
Familial febrile seizures 8
Familial florid osseous dysplasia
Familial focal epilepsy with variable foci
Familial gestational hyperthyroidism
Familial glioma
Familial hematuria
Familial hemiplegic migraine
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis 2
Familial hemophagocytic lymphohistiocytosis 3
Familial hemophagocytic lymphohistiocytosis 5
Familial hyperaldosteronism type II
Familial hyperaldosteronism type III
Familial hypercholesterolaemia
Familial hypercholesterolemia
Familial hyperinsulinism
Familial hyperkalemic periodic paralysis
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Familial hyperprolactinemia
Familial hypertrophic cardiomyopathy 23
Familial hypertryptophanemia
Familial hypobetalipoproteinemia 1
Familial hypobetalipoproteinemia 2
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia 1
Familial hypocalciuric hypercalcemia 2
Familial hypocalciuric hypercalcemia 3
Familial hypokalemia-hypomagnesemia
Familial hypoparathyroidism
Familial idiopathic steroid-resistant nephrotic syndrome
Familial infantile myasthenia
Familial infantile myoclonic epilepsy
Familial isolated congenital asplenia
Familial isolated deficiency of vitamin E
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 2
Familial medullary thyroid carcinoma
Familial melanoma
Familial multiple nevi flammei
Familial multiple trichoepitheliomata
Familial natural short sleep
Familial ovarian carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial porphyria cutanea tarda
Familial pseudohyperkalemia
Familial pulmonary capillary hemangiomatosis
Familial renal glucosuria
Familial retinal arterial macroaneurysm
Familial scaphocephaly syndrome, McGillivray type
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial temporal lobe epilepsy 5
Familial temporal lobe epilepsy 7
Familial temporal lobe epilepsy 8
Familial thoracic aortic aneurysm and aortic dissection
Familial thyroid dyshormonogenesis 1
Familial type 3 hyperlipoproteinemia
Familial type III hyperlipoproteinaemia
Familial visceral amyloidosis, Ostertag type
Fanconi Bickel syndrome
Fanconi anaemia
Fanconi anaemia A
Fanconi anaemia D1
Fanconi anaemia atypical
Fanconi anaemia like disorder
Fanconi anaemia with VACTERL association
Fanconi anemia
Fanconi anemia Failure to thrive
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group J
Fanconi anemia complementation group O
Fanconi anemia complementation group Q
Fanconi anemia complementation group R
Fanconi anemia complementation group T
Fanconi anemia complementation group V
Fanconi anemia, complementation group W
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Fanconi syndrome renal
Fanconi-Bickel syndrome
Farber disease
Farber disease/spinal muscular atrophy
Farber lipogranulomatosis
Fast channel myasthenic syndrome
Faster channel sensitization
Faster cognitive decline in alzheimer disease
Fasting HDL cholesterol
Fasting hypoglycemia hepatomegaly
Fasting insulin levels
Fasting plasma glucose level
Fasting plasma glucose levels
Fasting proinsulin concentration
Fasting proinsulin levels
Fatal cerebellar hypoplasia with multiorgan involvement
Fatal familial insomnia
Fatal infantile encephalopathy and/or pulmonary hypertension
Fatal infantile mitochondrial cardiomyopathy
Fatal infantile onset cardiomyopathy
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fatal surfactant deficiency
Fatigue failure to thrive & diarrhoea
Fatigue muscle complaints & dysarthria
Fatty acid oxidation disorder
Fatty acyl-CoA reductase 1 deficiency
Febrile & afebrile seizures and developmental delay
Febrile and afebrile seizures
Febrile seizure with early onset absence epilepsy in childhood and temporal lobe epilepsy in adulthood
Febrile seizures
Febrile seizures & epilepsy
Febrile seizures in epilepsy
Febrile seizures plus
Febrile seizures with intellectual / developmental disabilities
Febrile seizures, familial, 11
Febrile seizures, familial, 2
Febrile seizures/febrile seizures plus and focal seizures
Febrile seizures/febrile seizures plus and generalized seizures
Fechtner syndrome
Feingold syndrome
Feingold syndrome type 1
Female infertility
Female infertility and fertilisation failure
Female infertility due to zona pellucida defect
Female infertility with oocyte germinal vesicle arrest
Femoral absence micrognathia and cleft lip and palate
Femoral facial syndrome
Femoral fractures atypical
Femoral neck width
Fertilisation failure
Fertilisation failure and/or poor fertilisation
Fertility defects
Fetal abnormalities
Fetal akinesia
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 4
Fetal akinesia deformation sequence disorder
Fetal akinesia deformation sequence/Congenital myasthenic syndrome
Fetal akinesia with cerebral ischemia
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal alcohol syndrome predisposition to
Fetal growth restriction early onset
Fetal hypokinesia
Fetal/neonatal alloimmune thrombocytopaenia
Fibre lipid storage myopathy type 2
Fibre type disproportion
Fibre type disproportion and dilated cardiomyopathy
Fibre type disproportion myopathy congenital
Fibrillinopathy
Fibrillinopathy type 1
Fibrinogen variant
Fibroadenoma
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrosing poikiloderma with tendon contracture myopathy and pulmonary fibrosis
Fibrosis idiopathic
Fibrosis neurodegeneration and cerebral angiomatosis
Fibrosis of extraocular muscles type 2
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Fibrosis of extraocular muscles, congenital, 3b
Fibrosis of extraocular muscles, congenital, 5
Fibrosis progression in hepatitis C infection
Fibrosis risk
Fibrosis, neurodegeneration, and cerebral angiomatosis
Fibrous dysplasia of jaw
Figural/spacial ability
Filaminopathy
Fine and gross motor delay Intellectual disability Autistic features
Fine and gross motor delay Speech delay Intellectual disability Cleft/lip palate Dysmorphic features
Fine and gross motor delay speech delay seizures infantile spasms
Fine motor delay Intellectual disability Speech delay Muscle weakness Seizures Failure to thrive
Fine motor delay gross motor delay speech delay hypotonia seizures
Fine motor delay speech delay intellectual disability
Fine/ Gross Motor delay Autistic features Hypotonia Exercise intolerance Constipation Obesity muscular dystrophy
Fine/ gross motor delay speech delay intellectual disability learning disability hydrocephalus hypotonia seizures spasticity prematurity
Fine/Gross motor delay Nystagmus Hypotonia Seizures Encephalopathy
Fine/Gross motor delay Speech delay Intellectual disability Autism spectrum disorder Autistic features ADHD
Fine/Gross motor delay Speech delay Intellectual disability Developmental regression static Seizures
Fine/Gross motor delay Speech delay Intellectual disability Developmental regression ASD Seizures
Fine/Gross motor delay Speech delay Intellectual disability Hypotonia Seizures
Fine/Gross motor delay Speech delay Intellectual disability Learning disability Developmental regression Basal ganglia abnormalities Hypotonia
Fine/Gross motor delay Speech delay Intellectual disability Learning disability Seizures Hypotonia Wheelchair bound
Fine/Gross motor delay Speech delay Intellectual disability Muscle weakness High creatine kinase
Fine/Gross motor delay Speech delay Learning disability Hypertonia Seizure Spasticity Prematurity
Fine/gross motor delay Speech delay Intellectual disability Learning disability Developmental regression Autism Spectrum Disorders Seizures
Fine/gross motor delay speech delay restricted visual field since birth intractable epilepsy GDD
Fingerprint body myopathy
Finnish congenital nephrotic syndrome
Finnish gelsolin amyloidosis
Fish eye disease
Fish-eye disease
Flail arm syndrome
Flail leg syndrome
Fleck corneal dystrophy
Flexion contracture
Fluindione resistance
Fluorouracil response
Focal and secondary glomerulosclerosis
Focal dermal hypoplasia
Focal dystonia late onset
Focal epilepsy
Focal epilepsy & intellectual disability
Focal epilepsy and autism
Focal epilepsy and sleep dysregulation
Focal epilepsy developmental delay and autism
Focal epilepsy developmental delay and sleep dysregulation
Focal epilepsy developmental delay autism and sleep dysregulation
Focal epilepsy diplegia microhaematuria & cataract
Focal epilepsy drug resistant
Focal epilepsy non acquired
Focal epilepsy rolandic
Focal facial dermal dysplasia IV
Focal myoedema activity induced and hyperCKemia
Focal palmoplantar keratoderma
Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis & chronic kidney disease
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 6
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 8
Focal segmental glomerulosclerosis 9
Focal segmental glomerulosclerosis and medullary nephrocalcinosis
Focal segmental glomerulosclerosis steroid resistant with sensorineural hearing loss
Focal segmental glomerulosclerosis with Duane retraction syndrome
Focal seizures
Focal seizures developmental delay & failure to thrive
Focal seizures with secondary generalization
Focal-onset seizure
Foetal akinesia
Foetal akinesia deformation sequence syndrome
Foetal akinesia syndrome
Foetal hyperechogenic bowel
Foetal nuchal oedema and hydrops fetalis
Foetal pleural effusions
Folate malabsorption hereditary
Follicle stimulating hormone deficiency
Follicular bronchiolitis
Follicular lymphoma
Follicular thyroid cancer
Fontaine progeroid syndrome
Fontaine syndrome
Foramina parietalia permagna
Forced expiratory volume
Forebrain defects
Formiminoglutamic acidura
Foveal dystrophy
Foveal hypoplasia
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Foveal hypoplasia 1
Foveal hypoplasia 1 with cataract
Foveal hypoplasia and optic nerve misrouting without albinism
Foveal hypoplasia optic nerve decussation defects and anterior segment dysgenesis
Foveal hypoplasia with secondary nystagmus
Foveal retinoschisis autosomal recessive
Foveamacular dystrophy
Foveamacular dystrophy adult onset
Fowler syndrome
Fragile X mental retardation FRAXE
Fragile X mental retardation syndrome
Fragile X syndrome
Fragile site 11b
Frank Ter Haar syndrome
Frank-Ter Haar syndrome
Fraser syndrome
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome mild
Frasier syndrome
Freeman-Sheldon syndrome
Friedreich ataxia
Friedreich ataxia 1
Frontal bossing Recurrent high grade fever Brittle hair Sparse scalp hair Eczema Small pointed teeth
Frontal lissencephalic cortical dysplasia seizures
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 1
Frontometaphyseal dysplasia 2
Frontometaphyseal dysplasia with craniosynostosis
Frontonasal dysplasia
Frontonasal dysplasia acromelic
Frontonasal dysplasia with alopecia and genital anomaly
Frontorhiny
Frontotemporal dementia
Frontotemporal dementia & progressive supranuclear palsy like syndrome
Frontotemporal dementia / amyotrophic lateral sclerosis
Frontotemporal dementia amyotrophic lateral sclerosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Frontotemporal dementia behavioural variant
Frontotemporal dementia in GRN mutation carriers
Frontotemporal dementia increased risk
Frontotemporal dementia like syndrome
Frontotemporal dementia supranuclear gaze palsy & chorea
Frontotemporal dementia with Paget disease
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with parkinsonism
Frontotemporal dementia with parkinsonism and pick body like inclusions
Frontotemporal dementia/Parkinsonism
Frontotemporal dementia/corticobasal degeneration
Frontotemporal lobar degeneration
Frontotemporal lobar degeneration / amyotrophic lateral sclerosis
Fructose 1 6 bisphosphatase deficiency
Fructose intolerance
Fructose-biphosphatase deficiency
Fuchs corneal dystrophy
Fuchs corneal dystrophy late onset
Fuchs endothelial corneal dystrophy
Fucosidosis
Fucosyltransferase deficiency
Fucosyltransferase deficiency partial
Fuhrmann syndrome
Fukuyama muscular dystrophy with microcephaly
Fumarase deficiency
Fumarylacetocacetase pseudodeficiency
Fundus albipunctatus
Fundus dystrophy Sorsby
Fundus flavimaculatus
Fundus flavimaculatus with epilepsy
Fungal infections susceptibility to
Furlong syndrome
Furrow contractions in the iris
G6PD deficiency
GABA transaminase deficiency
GAPO syndrome
GATA2 deficiency
GCGR-related hyperglucagonemia
GGTaemia
GLUT1 deficiency syndrome
GLUT1 deficiency syndrome 1, autosomal recessive
GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM1-gangliosidosis, type I, with cardiac involvement
GM3 synthase deficiency
GNE myopathy
GRACILE syndrome
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GTP cyclohydrolase I deficiency
GTP cyclohydrolase I deficiency without hyperphenylalaninemia
Gabriele de Vries syndrome
Gain of function
Galactokinase deficiency
Galactokinase deficiency presenile cataract
Galactosaemia
Galactosaemia Duarte variant
Galactosaemia association
Galactosaemia epimerase deficiency
Galactose epimerase deficiency, severe
Galactosemia 4
Galactosialidosis
Galactosialidosis early infantile
Galactosialidosis, early infantile
Galactosialidosis, late infantile
Galactosylceramide beta-galactosidase deficiency
Gallbladder carcinoma increased risk assoc
Galloway Mowat syndrome
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 10
Galloway-Mowat syndrome 2, X-linked
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
Galloway-Mowat syndrome 5
Galloway-Mowat syndrome 6
Galloway-Mowat syndrome 7
Gallstone & liver disease
Gallstones young adult
Gamma glutamyl carboxylase deficiency
Gamma glutamyl transferase levels
Gamma glutamylcysteine synthetase deficiency
Gamma-aminobutyric acid transaminase deficiency
Gamma-glutamylcysteine synthetase deficiency
Ganglioneuroma/neuroblastoma
Gangliosidosis GM1
Gangliosidosis GM1 / Morquio disease B
Gangliosidosis GM1 infantile
Gangliosidosis GM1 juvenile
Gangliosidosis GM1 late infantile
Gangliosidosis GM1 modulating effect
Gangliosidosis GM2
Gapo syndrome
Gardner syndrome
Gastric adenocarcinoma
Gastric adenocarcinoma and oesophageal SCC
Gastric and/or breast cancer
Gastric cancer
Gastric cancer diffuse
Gastric cancer early onset diffuse
Gastric cancer increased risk
Gastric cancer non cardia increased risk
Gastric cancer predisposition to
Gastric cancer reduced risk
Gastric cancer susceptibility to
Gastric neuroendocrine tumour type 1
Gastritis
Gastro duodenal ulcers
Gastrointestinal cancer
Gastrointestinal defects and immunodeficiency syndrome
Gastrointestinal defects and immunodeficiency syndrome 2
Gastrointestinal disease in patients with H pylori infection
Gastrointestinal mesenchymal tumour
Gastrointestinal polyposis
Gastrointestinal polyposis late onset
Gastrointestinal stromal & other tumours
Gastrointestinal stromal tumor
Gastrointestinal stromal tumor, familial
Gastrointestinal stromal tumour
Gastrointestinal tumour stromal
Gastropathy Ménétrier like
Gaucher disease
Gaucher disease 1
Gaucher disease 2
Gaucher disease 3
Gaucher disease 3B
Gaucher disease atypical
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaucher disease/Parkinson disease
Gaze palsy horizontal
Gaze palsy horizontal with progressive scoliosis
Gaze palsy, familial horizontal, with progressive scoliosis 1
Geleophysic / acromicric dysplasia
Geleophysic dysplasia
Geleophysic dysplasia 1
Geleophysic dysplasia 2
Geleophysic dysplasia 3
Gender dysphoria
Gene transcript regulation
Generalised & myoclonic seizures intellectual disability hypotonia spasticity and muscle weakness
Generalised convulsive & intractable epilepsy
Generalised convulsive epilepsy & hemiplegia
Generalised dystonia early onset
Generalised epilepsy
Generalised epilepsy with febrile seizures plus
Generalised retinal dystrophy non syndromic
Generalized arterial calcification of infancy
Generalized arterial calcification of infancy and pseudoxanthoma elasticum
Generalized arterial calcification of infancy thrombocytopaenia and cardiovascular & central nervous system syndrome
Generalized arterial calcification of infancy with hypophosphataemic rickets
Generalized arterial tortuosity
Generalized cerebral atrophy/hypoplasia
Generalized comedones acne and hidradenitis suppurativa
Generalized dominant dystrophic epidermolysis bullosa
Generalized dystonia ataxia and bradykinesia
Generalized dystonia athetosis and parkinsonism
Generalized epilepsy
Generalized epilepsy and paroxysmal dyskinesia
Generalized epilepsy developmental delay and autism
Generalized epilepsy of infancy
Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus 2
Generalized epilepsy with febrile seizures plus 3
Generalized epilepsy with febrile seizures plus, type 1
Generalized epilepsy with febrile seizures plus, type 10
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 7
Generalized epilepsy with febrile seizures plus, type 9
Generalized epilepsy with mild intellectual disability
Generalized epilepsy with myoclonic atonic seizures
Generalized epilepsy with severe intellectual disability
Generalized epilepsy-paroxysmal dyskinesia syndrome
Generalized hypertrichosis
Generalized hypotonia
Generalized hypotonic dystonia mildly diminished cerebral volume intellectual disability dysphagia poor weight gain and myclonus
Generalized juvenile polyposis/juvenile polyposis coli
Generalized myoclonic seizure
Generalized pustular psoriasis
Generalized resistance to thyroid hormone
Generalized tonic clonic seizures
Generalized tonic clonic seizures with intellectual / developmental disabilities
Generalized tonic-clonic seizures
Genetic epilepsy with febrile seizures plus
Genetic non-acquired premature ovarian failure
Genetic syndrome with a Dandy-Walker malformation as major feature
Genital malformations
Genitopatellar syndrome
Genome wide recombination rate
Genomic instability
Geographic tongue
Germ cell tumor of testis
Geroderma osteodysplastica
Gerstmann Straeussler Scheinker syndrome
Gerstmann Straeussler syndrome
Gerstmann-Straussler-Scheinker syndrome
Ghosal hematodiaphyseal dysplasia
Ghosal hematodiaphyseal syndrome
Giant axonal neuropathy
Giant axonal neuropathy 1
Giant axonal neuropathy 2
Giant axonal neuropathy with straight hair
Giant platelet disorder
Gigantism
Gilbert syndrome
Gillespie syndrome
Gingival fibromatosis
Gitelman like syndrome
Gitelman syndrome
Gitelman syndrome & diabetes
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
Glass syndrome
Glaucoma
Glaucoma 1 open angle
Glaucoma 1, open angle, A
Glaucoma 1, open angle, B
Glaucoma 1, open angle, E
Glaucoma 1, open angle, O
Glaucoma 3, primary congenital, E
Glaucoma 3A
Glaucoma ASD dysmorphic facial features nephrotic syndrome developmental delay short stature & feeding difficulties
Glaucoma and aniridia
Glaucoma congenital
Glaucoma craniofacial and other systemic features
Glaucoma high tension
Glaucoma modifier of
Glaucoma narrow angle
Glaucoma newborn
Glaucoma of childhood
Glaucoma open angle
Glaucoma open angle juvenile onset
Glaucoma open angle sporadic juvenile
Glaucoma primary
Glaucoma primary angle closure
Glaucoma primary angle closure / high hyperopia
Glaucoma primary congenital
Glaucoma primary open angle
Glaucoma primary open angle susceptibility to
Glaucoma primary open angle increased risk
Glaucoma primary open angle/pseudoexfoliation syndrome
Glaucoma protection against
Glaucoma with retinal detachment
Glaucoma, primary open angle, juvenile-onset
Glioblastoma
Glioblastoma & colon cancer
Glioblastoma increased risk of
Glioblastoma multiforme
Glioblastoma multiforme, somatic
Glioma
Glioma and meningioma
Glioma and prostate cancer risk
Glioma high grade
Glioma increased risk
Glioma reduced risk
Glioma susceptibility 1
Global development delay
Global development delay & mental retardation
Global development delay and epilepsy
Global development delay and intellectual disability
Global development delay and ophthalmoplegia
Global development delay and seizures
Global development delay epileptic encephalopathy and spasticity
Global development delay intellectual disability and seizures
Global development delay intellectual disability muscle weakness and autism
Global development delay schizencephaly and dysgenesis of corpus callosum
Global development delay seizures hypotonia weakness ataxia and facial dysmorphism
Global developmental abnormalities
Global developmental delay
Global developmental delay & cataract
Global developmental delay & epilepsy
Global developmental delay & seizures
Global developmental delay & speech delay
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Global developmental delay Chiari malformation type 1 cervical syrinx thin corpus callosum
Global developmental delay Macrocephaly Dysmorphic features
Global developmental delay and Potter sequence
Global developmental delay and autism spectrum disorder
Global developmental delay and dysmorphic facies
Global developmental delay and dysmorphic features
Global developmental delay and epilepsy
Global developmental delay and hearing loss
Global developmental delay and heart disease
Global developmental delay and seizures
Global developmental delay autistic features behavioural disturbances and epilepsy
Global developmental delay behavioural disturbance epilepsy dysmorphic features and white matter abnormalities
Global developmental delay bilateral spastic paresis dysphagia & seizures
Global developmental delay craniofacial and skeletal abnormalitites and hypotonia
Global developmental delay craniofacial and skeletal abnormalitites and hypotonia/hypertonia
Global developmental delay craniofacial and skeletal abnormalitites and seizures
Global developmental delay craniofacial and skeletal abnormalitites seizures and hypotonia
Global developmental delay epilepsy and brain atrophy
Global developmental delay epilepsy and brain malformation
Global developmental delay epilepsy and primary microcephaly
Global developmental delay epilepsy and progressive microcephaly
Global developmental delay epilepsy hypotonia hearing loss hyperopia and strabismus
Global developmental delay failure to thrive and renal tubulopathy
Global developmental delay failure to thrive progressive microcephaly and refractive epilepsy
Global developmental delay hearing loss and ataxia
Global developmental delay hip contractures dysmorphic features short staure and mild scoliosis
Global developmental delay holoprosencephaly microcephaly lumbosacral myelomeningocele epilepsy proptosis and diabetes
Global developmental delay hypertonia spasticity optic atrophy brain atrophy
Global developmental delay hypotonia and mild dysmorphic features
Global developmental delay hypotonia and movement abnormality
Global developmental delay hypotonia and weakness respiratory insufficiency blindness and lactic acidaemia
Global developmental delay hypotonia epileptic encephalopathy & dysmorphic features
Global developmental delay intellectual disability and ADHD
Global developmental delay intellectual disability speech impairment and gait abnormalities
Global developmental delay light complexion early onset focal segmental glomerulosclerosis
Global developmental delay mega cisterna magna seizure hypotonia genital and skeletal abnormalities
Global developmental delay microcephaly & epilepsy
Global developmental delay microcephaly cataract mild cerebellar atrophy elevated methylmalonic acid
Global developmental delay microcephaly heart defects failure to thrive and liver disease
Global developmental delay microcephaly truncal obesity and dysmorphic facies
Global developmental delay primary microcephaly lissencephaly epilepsy
Global developmental delay seizures & generalised myoclonias
Global developmental delay seizures & intellectual disability
Global developmental delay seizures and respiratory problems
Global developmental delay seizures hypotonia myopathy & microcephaly
Global developmental delay severe cerebellar dysfunction hearing loss cerebellar atrophy
Global developmental delay severe dystonia and microcephaly congenital cataract
Global developmental delay syndrome with skeletal ocular and neuromuscular involvement
Global developmental delay with infantile spasms
Global developmental delay with intellectual disability
Global developmental delay with lack of lactic acidemia or liver involvement
Global developmental delay with speech and behavioral abnormalities
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Global developmental delay, progressive ataxia, and elevated glutamine
Global developmental delay/intellectual disability cerebral malformations seizures and severe sleep disturbance
Global developmental delay/intellectual disability regression seizures and anaemia
Global developmental delay/intellectual disability seizures and autism spectrum disorder
Global developmental delay/intellectual disability seizures and constipation
Global developmental delay/intellectual disability seizures autism spectrum disorder and diaphragmatic hernia
Global developmental delay/intellectual disability seizures facial dysmorphism and delayed bone age
Global developmental delay/intellectual disability seizures microcephaly and multiple congenital anomalies
Global ichthyosis abnormal nails absent hair and abnormal pigmentation
Globally delayed delayed myelination hypotonia facial dysmorphia
Globoid cell leukodystrophy
Globozoospermia
Globozoospermia with acephalic spermatozoa
Globular glial tauopathy type III
Glomerular kidney disease
Glomerular microscopic haematuria
Glomerulocystic kidney disease
Glomerulonephritis
Glomerulonephritis C3
Glomerulonephritis crescentic and necrotizing
Glomerulonephritis with isolated C3 deposits
Glomerulopathy
Glomerulopathy with fibronectin deposits
Glomerulopathy with fibronectin deposits 2
Glomerulosclerosis focal segmental
Glomus tumour
Glucagon cell adenomatosis
Glucagon cell hyperplasia and neoplasia with hypercalcaemia
Glucocorticoid Deficiency
Glucocorticoid deficiency
Glucocorticoid deficiency 1
Glucocorticoid deficiency 2
Glucocorticoid deficiency 4
Glucocorticoid deficiency with achalasia
Glucocorticoid receptor deficiency
Glucocorticoid resistance
Glucocorticoid resistance, cellular
Glucocorticoid responsiveness in severe asthma
Glucocorticoid-remediable aldosteronism
Glucose / galactose malabsorption
Glucose 6 phosphate dehydrogenase deficiency
Glucose homeostasis
Glucose transporter type 1 deficiency syndrome
Glucosephosphate isomerase deficiency
Glucosidase 1 deficiency
Glutamate excess infantile cataract and profound developmental delay
Glutamate formiminotransferase deficiency
Glutamate pyruvate transaminase 2 deficiency
Glutaminase deficiency
Glutamine deficiency
Glutamine synthetase deficiency
Glutaric acidaemia 1
Glutaric acidaemia 2
Glutaric acidaemia 2a
Glutaric acidaemia 2b
Glutaric acidaemia 2c
Glutaric acidaemia IIB
Glutaric acidemia IIA
Glutaric acidemia IIB
Glutaric acidemia IIC
Glutaric acidemia iic, late-onset
Glutaric aciduria 2a
Glutaric aciduria 2b
Glutaric aciduria, type 1
Glutathione reductase deficiency
Glutathione synthetase deficiency
Glutathione synthetase deficiency with femur agenesis
Glutathione synthetase deficiency without 5-oxoprolinuria
Gluthathione synthetase deficiency
Glycerol kinase deficiency
Glycine N methyltransferase deficiency
Glycine N-methyltransferase deficiency
Glycine encephalopathy
Glycine levels
Glycogen storage disease
Glycogen storage disease 0
Glycogen storage disease 1a
Glycogen storage disease 1a with gout
Glycogen storage disease 2
Glycogen storage disease 2 infantile onset
Glycogen storage disease 2 juvenile onset
Glycogen storage disease 2 late onset
Glycogen storage disease 2 late onset with limb girdle muscle weakness & nonspecific hyperCKemia
Glycogen storage disease 2b
Glycogen storage disease 3
Glycogen storage disease 3a
Glycogen storage disease 3c
Glycogen storage disease 3d
Glycogen storage disease 4
Glycogen storage disease 4 non lethal neuromuscular
Glycogen storage disease 6
Glycogen storage disease 7
Glycogen storage disease 9c
Glycogen storage disease II, adult form
Glycogen storage disease IIIa
Glycogen storage disease IIIc
Glycogen storage disease IV, classic hepatic
Glycogen storage disease IV, combined hepatic and myopathic
Glycogen storage disease IV, nonprogressive hepatic
Glycogen storage disease IX
Glycogen storage disease IXa
Glycogen storage disease IXa1
Glycogen storage disease IXa2
Glycogen storage disease IXc
Glycogen storage disease IXd
Glycogen storage disease XV
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease modifier of
Glycogen storage disease type II, infantile
Glycogen storage disease type III
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VI
Glycogen storage disease, type VII
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Glycogenic acanthosis
Glycogenin 1 deficiency
Glycolate oxidase deficiency
Glycophorin C variant
Glycoprotein storage disease
Glycosylation disorder
Glycosylphosphatidylinositol anchor deficiency
Glycosylphosphatidylinositol biosynthesis defect 15
Glycosylphosphatidylinositol biosynthesis defect 16
Glycosylphosphatidylinositol biosynthesis defect 17
Glycosylphosphatidylinositol biosynthesis defect 18
Glycosylphosphatidylinositol biosynthesis defect 21
Glycosylphosphatidylinositol bioynthesis defect
Glycosylphosphatidylinositol deficiency
Gm2-gangliosidosis, adult
Gm2-gangliosidosis, adult-onset
Gm2-gangliosidosis, chronic
Gm2-gangliosidosis, juvenile
GnRH deficiency
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia atypical
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
Goitre
Goitre adenomatous
Goitre congenital
Goitre multinodular non toxic
Goitre simple
Goitre with hypothyroidism
Goitrous hypothyroidism
Golabi Ito Hall syndrome
Goldberg Shprintzen syndrome
Goldberg-Shprintzen megacolon syndrome
Goldblatt syndrome
Goldmann Favre syndrome
Goldmann Favre syndrome & vasoproliferative tumour of the retina
Gonadal dysgenesis
Gonadal dysgenesis complete
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
Gonadoblastoma
Gonadotrophin resistance
Gonadotropin independent precocious puberty with primary adrenal insufficiency
Gonadotropin releasing hormone deficiency
Gonadotropin-independent familial sexual precocity
Good methotrexate response
Gordon Holmes syndrome
Gordon syndrome
Gordon syndrome / arthrogryposis distal type 5
Gorlin like syndrome.
Gorlin syndrome
Gorlin syndrome modifier
Gout
Gout decreased risk
Gout early onset
Gout increased risk
Gout primary
Gov platelet antigen variation
Graft versus host disease
Gram positive infection increased risk
Grange syndrome
Granular corneal dystrophy
Granulocytopenia with immunoglobulin abnormality
Granulomatous arthritis paediatric
Granulomatous disease, chronic, X-linked
Granulomatous disease, chronic, X-linked, variant
Granulomatous disease, chronic, autosomal recessive, 5
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
Graves disease
Graves disease earlier age of onset association
Graves' disease
Gray platelet syndrome
Grebe syndrome
Greenberg dysplasia
Greenberg skeletal dysplasia
Greig cephalopolysyndactyly / Pallister Hall syndrome with agenesis of gallbladder & pancreas
Greig cephalopolysyndactyly syndrome
Grey platelet syndrome
Griscelli syndrome
Griscelli syndrome type 2
Griscelli syndrome type 3
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Groenouw corneal dystrophy type I
Gross and fine motor delay speech delay hypotonia
Gross developmental delay hypoglycemia seizures
Gross motor delay
Gross motor delay Hypotonia Seizures hepatosplenomegaly sepsis and thrombocytopenia
Gross motor delay Seizures
Gross motor delay Speech delay Developmental regression Autistic features Upper limbs hypotonia Lower limbs spasticity
Gross motor delay Speech delay Visual impairment Seizures Hypotonia
Gross motor delay epicanthal fold frontal bossing diplopia hyperlaxity undescended testis
Gross motor delay hypotonia 2nd degree consanguinity
Gross motor delay hypotonia muscle weakness
Gross motor delay speech delay hypotonia infantile spasm seizures
Gross motor delay speech delay tonic clonic seizures
Gross motor regression dysarthria hypotonia opthalmoplegia and ataxic gait.
Gross/fine motor delay and intellectual disability
Growth Retardation Fine motor delay
Growth abnormality
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay microcephaly & intellectual disability
Growth failure severe
Growth failure/short stature
Growth hormone deficiency
Growth hormone deficiency 1B
Growth hormone deficiency 2
Growth hormone deficiency idiopathic
Growth hormone deficiency isolated
Growth hormone deficiency with pituitary anomalies
Growth hormone insensitivity
Growth hormone insensitivity & immune dysregulation
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Growth impairment
Growth restriction microcephaly distinctive craniofacial features alopecia hypoplastic kidneys & developmental delay
Growth retardation
Growth retardation & microcephaly
Growth retardation & multiple malformations
Growth retardation Fine and gross motor delay Speech delay Developmental regression Blindness Optic atrophy White matter changes Hypertonia
Growth retardation Hypotonia Muscle weakness Syndactyly Contractures
Growth retardation Macrocephaly Mild dysostosis complex Hirsutism
Growth retardation Speech delay Ptosis Hypertelorism of eye Cardiomyopathy
Growth retardation and developmental delay
Growth retardation and neurological deterioration
Growth retardation and normocephaly
Growth retardation creatine phosphokinase abnormalities high transaminases
Growth retardation intellectual disability & walking difficulties
Growth retardation intrauterine & postnatal
Growth retardation lymphadenopathy hepatosplenomegaly
Growth retardation prenatal onset with intellectual disability muscular hypotonia & hepatopathy
Growth retardation with neutropaenia and NK cell deficiency
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Growth/puberty delay
Guanidinoacetate methyltransferase deficiency
Guillain Barre syndrome reduced risk
Guttmacher syndrome
Gynaecomastia
Gyrate atrophy
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
H antigen Bombay phenotype
H antigen Reunion phenotype
H antigen para Bombay phenotype
H syndrome
H1N1 influenza susceptibility to
HARP syndrome
HCV infectivity
HDL C levels
HDL C levels in African blacks
HDL cholesterol
HDL cholesterol deficiency & premature coronary artery disease
HDL cholesterol levels
HDL cholesterol levels in women
HDL deficiency
HDL levels
HELIX syndrome
HELLP syndrome
HHH syndrome
HIBCH deficiency
HIDEA syndrome
HIV 1 resistance to
HIV 1 risk
HIV 1 susceptibility to
HIV infection susceptibility to association
HIV progression to AIDS
HIV replication
HMG CoA lyase deficiency
HNF1B related disease
HNRNPH1 related syndromic intellectual disability
HNSHA due to aldolase A deficiency
HSD10 mitochondrial disease
HSD17B10 deficiency
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPOKALEMIC TUBULOPATHY AND DEAFNESS
Haemangioblastoma
Haemangioma infantile
Haematocrit and haemoglobin levels
Haematological traits
Haematuria
Haemochromatosis
Haemochromatosis juvenile
Haemochromatosis modifier of
Haemochromatosis type 2a late onset
Haemochromatosis type 4
Haemoglobin H disease
Haemoglobin levels
Haemoglobin variant
Haemoglobinopathy beta
Haemolysis and splenomegaly
Haemolysis elevated liver enzymes & low platelet count
Haemolysis elevated liver enzymes and low platelets
Haemolysis mild chronic
Haemolytic anaemia
Haemolytic anaemia nonspherocytic
Haemolytic anaemia spherocytic
Haemolytic disease of the fetus and newborn
Haemolytic disease of the newborn
Haemolytic uraemic syndrome
Haemolytic uraemic syndrome Streptococcus pneumoniae associated
Haemolytic uraemic syndrome atypical
Haemolytic uraemic syndrome atypical / C3 glomerulopathy
Haemolytic uraemic syndrome atypical / C3 glomerulopathy & macular degeneration
Haemolytic uraemic syndrome reduced susceptibility
Haemolytic uraemic syndrome susceptibility to
Haemophagocytic lymphohistiocytosis
Haemophagocytic lymphohistiocytosis atypical
Haemophagocytic lymphohistiocytosis atypical familial
Haemophagocytic lymphohistiocytosis familial
Haemophagocytic lymphohistiocytosis incomplete presentation
Haemophagocytic lymphohistiocytosis type 3
Haemophagocytic lymphohistiocytosis type 3 atypical
Haemophilia A
Haemophilia A inhibitor development increased risk
Haemophilia A inhibitor development protection against
Haemophilia B
Haemophilia B severe
Haemophilia B skewed X inactivation
Haemophilia modifier of
Haemorrhages
Haemorrhagic destruction of the brain and cataracts
Haemorrhagic diathesis hepatic and renal failure multifocal hyperechogenisity and complex I deficiency
Haemorrhagic fever with renal syndrome reduced severity
Haemorrhagic stroke
Haemorrhagic telangiectasia 2
Hailey Hailey disease
Hailey Hailey disease modifier of
Hailey Hailey disease with condyloma acuminata
Haim Munk syndrome
Haim-Munk syndrome
Hair colour
Hair loss keratoderma & cardiomyopathy distal
Hallerman Streiff/ODDD syndrome
Haloperidol induced toxicity
Hamartoma of hypothalamus
Hamartoma tumour syndrome
Hand foot genital syndrome
Hand malformation congenital
Hand tremor
Hand-foot-genital syndrome
Hao-Fountain syndrome
Haploinsufficiency of A20
Harderoporphyria
Harel Yoon syndrome
Harel-Yoon syndrome
Hartnup disorder
Hartsfield syndrome
Hartsfield-Bixler-Demyer syndrome
Hashimoto's thyroiditis
Hawkinsinuria
Hb SS disease
Head & Neck squamous cell carcinoma
Head and neck cancer
Head and neck cancer increased risk
Head and neck neoplasm
Head and neck squamous cell carcinoma
Head neck and nervous system abnormalities
Head tremor
Hearing impairment
Hearing impairment age related
Hearing impairment and infertile male syndrome
Hearing impairment and tinnitus
Hearing impairment autosomal recessive
Hearing impairment bilateral sensorineural
Hearing impairment nonsyndromic
Hearing impairment nonsyndromic autosomal dominant
Hearing impairment nonsyndromic autosomal recessive
Hearing impairment postlingual
Hearing impairment with ear and brain anomalies
Hearing loss
Hearing loss X linked & peripheral neuropathy
Hearing loss abnormal white matter lactic acidosis enzymatic defects of respiratory chain complexes and optic neuropathy
Hearing loss adult onset
Hearing loss age related
Hearing loss and eye abnormailities
Hearing loss and retinitis pigmentosa
Hearing loss autosomal dominant
Hearing loss autosomal recessive
Hearing loss digenic non syndromic
Hearing loss dysmorphism developmental delay and multiple congenital anomalies
Hearing loss early childhood
Hearing loss early onset
Hearing loss early onset and leukoencephalopathy
Hearing loss heart defects and posterior embryotoxon
Hearing loss high frequency
Hearing loss late onset
Hearing loss microcephaly early onset seizures & developmental delay
Hearing loss micrognathia developmental delay and dysmorphism
Hearing loss moderate progressive
Hearing loss myopia and dysmorphism
Hearing loss non syndromic
Hearing loss non syndromic autosomal dominant
Hearing loss non syndromic autosomal recessive
Hearing loss non syndromic late onset
Hearing loss non syndromic progressive sensorineural autosomal dominant
Hearing loss non syndromic sensorineural
Hearing loss nonsyndromic progressive late onset autosomal dominant
Hearing loss progressive
Hearing loss progressive and dizziness
Hearing loss progressive late onset
Hearing loss progressive nonsyndromic
Hearing loss sensorineural
Hearing loss sensorineural nonsyndromic
Hearing loss syndromic
Hearing loss unilateral
Hearing loss with dilation of vestibular aqueduct
Hearing loss with stapes ankylosis
Hearing loss, X-linked 1
Hearing loss, X-linked 6
Hearing loss, autosomal dominant 37
Hearing loss, autosomal dominant 71
Hearing loss, autosomal dominant 72
Hearing loss, autosomal dominant 75
Hearing loss, autosomal dominant 76
Hearing loss, autosomal dominant 77
Hearing loss, autosomal dominant 78
Hearing loss, autosomal dominant 79
Hearing loss, autosomal recessive
Hearing loss, autosomal recessive 107
Hearing loss, autosomal recessive 108
Hearing loss, autosomal recessive 109
Hearing loss, autosomal recessive 113
Hearing loss, autosomal recessive 114
Hearing loss, autosomal recessive 117
Hearing loss, autosomal recessive 119
Hearing loss, autosomal recessive 57
Hearing loss, autosomal recessive 94
Hearing loss, autosomal recessive 99
Heart block type 1
Heart central nervous system and muscle defects with lactic acidosis
Heart defects and diabetes permanent neonatal
Heart defects fused lung lobes absent extrahepatic bile ducts intestinal stenosis & pouch
Heart defects with mtDNA depletion
Heart dilation
Heart disease
Heart disease and restrictive cardiomyopathy
Heart failure increased risk
Heart failure poor survival
Heart failure survival
Heart failure with reduced ejection fraction
Heart malformations
Heart rate
Heart rate.
Heart valve defect
Heart, malformation of
Heat lability hexosaminidase
Hecht syndrome
Height
Heimler syndrome
Heimler syndrome 1
Heimler syndrome 2
Heinz body anemia
Helicobacter pylori induced duodenal ulcer and gastritis association
Helicobacter pylori related gastric carcinoma
Helicoid peripapillary chorioretinal degeneration
Helsmoortel Van der Aa syndrome
Hematologic neoplasm
Hematuria
Hemi facial palsy
Hemiconvulsion Hemiplegia Epilepsy syndrome
Hemimegalencephaly
Hemiparesis right side & epilepsy
Hemiplegia
Hemiplegia infantile
Hemiplegia/hemiparesis
Hemiplegic migraine
Hemiplegic migraine 2
Hemiplegic migraine 2 with febrile seizures
Hemiplegic migraine 3
Hemiplegic migraine and ataxia
Hemiplegic migraine and chronic headache
Hemiplegic migraine and epilepsy
Hemiplegic migraine and episodic ataxia 2
Hemiplegic migraine and neurological/concussion related symptoms following trivial head trauma
Hemiplegic migraine cerebellar dysfunction & cognitive decline
Hemiplegic migraine coma cerebellar atrophy
Hemiplegic migraine progressive cerebellar ataxia
Hemiplegic migraine with cerebellar signs
Hemiplegic migraine/alternating hemiplegia of childhood
Hemochromatosis type 1
Hemochromatosis type 2A
Hemochromatosis type 2B
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin E
Hemoglobin Quong Sze
Hemoglobinopathy
Hemolytic anemia
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to hexokinase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency
Hemolytic disease of fetus OR newborn due to isoimmunization
Hemolytic uremic syndrome
Hemolytic uremic syndrome associated with bordetella pertussis infection
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hemolytic uremic syndrome, atypical, susceptibility to, 7
Hemophagocytic lymphohistiocytosis
Hemophilia b(m)
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hennekam lymphangiectasia-lymphedema syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 3
Hennekam syndrome
Henoch Schonlein purpura
Heparin cofactor 2 deficiency
Heparin cofactor II deficiency
Hepatic cirrhosis dystonia polycythaemia & hypermanganesaemia
Hepatic coma
Hepatic cysts with ductal malformation polycystic kidney with renal failure skeletal dysplasia & cerebellar hypoplasia
Hepatic disease
Hepatic encephalopathy
Hepatic failure & mitochondrial DNA depletion
Hepatic fibrosis isolated
Hepatic hemangioma
Hepatic lipase deficiency
Hepatic methionine adenosyltransferase deficiency
Hepatitis B chronic
Hepatitis B chronic susceptibility to
Hepatitis C clearance
Hepatitis C infection resistance to
Hepatitis idiopathic neonatal
Hepatoblastoma
Hepatocellular adenoma increased risk with mutated TCF1
Hepatocellular carcinoma
Hepatocellular carcinoma cirrhotic
Hepatocellular carcinoma early onset genomic instability & progeroid features
Hepatocellular carcinoma in nonalcoholic fatty liver disease
Hepatocellular carcinoma increased risk
Hepatocellular carcinoma susceptibility to
Hepatocellular carcinoma with polycythaemia
Hepatocellular injury drug induced
Hepatocerebral degeneration
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatoerythropoietic porphyria
Hepatomegaly
Hepatomegaly stepatohepatitis & hypertriglyceridaemia
Hepatomegaly/Cirrhosis/Liver failure
Hepatopathy and aplasia cutis congenita
Hepatosplenomegaly and cholestatic jaundice
Hepatosplenomegaly and hyperbilirubinaemia
Her2 positive breast cancer relapse
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary acrodermatitis enteropathica
Hereditary angioedema type 1
Hereditary angioedema type 3
Hereditary angioedema with normal C1Inh
Hereditary angioneurotic edema
Hereditary antithrombin deficiency
Hereditary arterial and articular multiple calcification syndrome
Hereditary ataxia
Hereditary breast ovarian cancer syndrome
Hereditary cancer predisposing syndrome
Hereditary cancer-predisposing syndrome
Hereditary cerebral amyloid angiopathy, Icelandic type
Hereditary cryohydrocytosis with reduced stomatin
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary diffuse leukoencephalopathy with spheroids Swedish type
Hereditary factor II deficiency disease
Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Hereditary factor X deficiency disease
Hereditary factor XI deficiency disease
Hereditary factor XIII deficiency disease
Hereditary fructosuria
Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia with brain arteriovenous malformations
Hereditary hemochromatosis
Hereditary hemorrhagic telangiectasia
Hereditary hypercarotenemia and vitamin A deficiency
Hereditary hyperekplexia
Hereditary hyperferritinemia with congenital cataracts
Hereditary hypophosphataemic rickets with hypercalciuria
Hereditary insensitivity to pain with anhidrosis
Hereditary intrinsic factor deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary liability to pressure palsies
Hereditary lymphedema type I
Hereditary methemoglobinemia
Hereditary motor & sensory neuropathy
Hereditary motor & sensory neuropathy II
Hereditary motor & sensory neuropathy II with mild intellectual disability
Hereditary motor & sensory neuropathy phenotype modifier
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor neuropathy
Hereditary motor neuropathy distal
Hereditary motor neuropathy type V
Hereditary mucoepithelial dysplasia
Hereditary mucoepithelial dysplasia.
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neutrophilia
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Hereditary pancreatitis
Hereditary pediatric Behçet-like disease
Hereditary persistence of foetal haemoglobin
Hereditary pheochromocytoma-paraganglioma
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
Hereditary sensory and autonomic neuropathy VI
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 6
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary spastic paraplegia
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 12
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia 17
Hereditary spastic paraplegia 18
Hereditary spastic paraplegia 2
Hereditary spastic paraplegia 26
Hereditary spastic paraplegia 28
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 35
Hereditary spastic paraplegia 39
Hereditary spastic paraplegia 3A
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 42
Hereditary spastic paraplegia 43
Hereditary spastic paraplegia 44
Hereditary spastic paraplegia 46
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia 53
Hereditary spastic paraplegia 54
Hereditary spastic paraplegia 55
Hereditary spastic paraplegia 56
Hereditary spastic paraplegia 57
Hereditary spastic paraplegia 5A
Hereditary spastic paraplegia 6
Hereditary spastic paraplegia 62
Hereditary spastic paraplegia 64
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 72
Hereditary spastic paraplegia 73
Hereditary spastic paraplegia 75
Hereditary spastic paraplegia 77
Hereditary spastic paraplegia 8
Hereditary spastic paraplegia 9A
Hereditary spastic paraplegia with cerebellar dysfunction
Hereditary spastic paraplegia with thinning of the corpus callosum
Hereditary spherocytosis
Hereditary spherocytosis type 2
Hereditary spherocytosis type 3
Hereditary spherocytosis type 4
Hereditary spherocytosis type 5
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary xanthinuria type 1
Hermansky Pudlak syndrome
Hermansky Pudlak syndrome 6
Hermansky Pudlak syndrome type 2
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermaphroditism
Hernia inguinal
Herpes simplex encephalitis
Herpes simplex encephalitis UNC93B deficient
Herpes simplex labialis frequency
Herpes simplex virus encephalitis childhood
Heterotaxy
Heterotaxy & Neurodevelopmental disorder
Heterotaxy X linked
Heterotaxy visceral
Heterotaxy with ciliary aplasia
Heterotaxy with extra cardiac anomalies
Heterotaxy with extracardiac anomalies
Heterotaxy with neurodevelopmental disorder
Heterotaxy, visceral, 1, X-linked
Heterotaxy, visceral, 10, autosomal, with male infertility
Heterotaxy, visceral, 12, autosomal
Heterotaxy, visceral, 2, autosomal
Heterotaxy, visceral, 7, autosomal
Heterotopia
Heterotopia nodular
Heterotopia periventricular
Heterotopia periventricular nodular
Heterotopia ribbon like
Heterotopia, periventricular, X-linked dominant
Heterotopia, periventricular, with frontometaphyseal dysplasia
Heterotopic ossification in Klippel Trenaunay syndrome
Hexokinase deficiency
Heyn-Sproul-Jackson syndrome
Hidradenitis suppurativa
Hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia syndrome
High CK levels
High HDL cholesterol
High LDL cholesterol
High altitude pulmonary oedema
High arched palate pectus deformity joint hypermobility and arachnodactyly
High bone mass
High bone mass trait
High dietary cholesterol absorption
High grade ovarian cancer
High hyperopia
High hyperopia and nanopthalmos
High myopia
High myopia early onset
High myopia early onset (eoHM)
High myopia early onset female limited
High myopia increased risk
High myopia late onset (loHM)
High myopia non syndromic
High myopia non syndromic early onset
High total cholesterol levels
High triglyceride
Higher HDL cholesterol level
Higher LDL cholesterol level
Higher TAFI antigen levels
Higher activity
Higher binding capacities
Higher birth weight
Higher blood pressure in males
Higher blood pressure in overweight people association
Higher body mass index
Higher catalytic activity
Higher cholesterol in hyperlipidaemia association
Higher diastolic blood pressure in women
Higher final fetal haemoglobin levels in response to hydroxyurea in sickle cell anaemia
Higher induced CYP1A1 activity
Higher plasma HDL cholesterol
Higher plasma HDL cholesterol in African Americans
Higher plasma triglyceride level
Higher platelet count
Higher sST2 levels
Higher standardised childhood intelligence score association
Higher triglyceride levels
Hip bone mineral density
Hip dysplasia Beukes type
Hip dysplasia and spinal osteochondritis
Hip dysplasia, Beukes type
Hip osteoarthritis
Hippocampal volume loss
Hirschsprung disease
Hirschsprung disease associated enterocolitis
Hirschsprung disease structural eye anomalies
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 2
Histatin 2 deficiency
Histidinaemia
Histidine levels
Histidine rich glycoprotein deficiency
Histiocytic medullary reticulosis
Histiocytoid cardiomyopathy
History of neurodevelopmental disorder
Hodgkin disease
Hodgkin lymphoma
Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency mild
Holocarboxylase synthetase deficiency severe
Holoprosencephaly
Holoprosencephaly & microcephaly
Holoprosencephaly 11
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 7
Holoprosencephaly 9
Holoprosencephaly alobar
Holoprosencephaly and hydrocephalus
Holoprosencephaly and moyamoya disease
Holoprosencephaly like phenotype
Holoprosencephaly lobar
Holoprosencephaly microcephaly and arachnoid cyst
Holoprosencephaly modifier
Holoprosencephaly sequence
Holoprosencephaly with anophthalmia branchial arch anomalies & CNS anomalies
Holoprosencephaly with heminasal aplasia & orbital anomalies
Holt Oram syndrome
Holt-Oram syndrome
Homocysteinaemia with methylmalonic aciduria
Homocystinuria
Homocystinuria MTHFR deficiency
Homocystinuria cblD type
Homocystinuria cblE type
Homocystinuria cblG type
Homocystinuria due to MTHFR deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria, cblD type, variant 1
Homocystinuria, pyridoxine-nonresponsive
Homocystinuria, pyridoxine-responsive
Hot water epilepsy
Hoyeraal Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome
Humerofemoral hypoplasia with radiotibial ray deficiency
Hunter Syndrome
Huntington disease delayed age at onset
Huntington disease-like 1
Huntington like disease
Huntington like disorder autosomal recessive
Hurler Scheie syndrome
Hurler syndrome
Hurthle cell carcinoma of thyroid
Hutchinson Gilford progeria syndrome
Hutchinson Gilford progeria syndrome/mandibuloacral dysplasia
Hutchinson-Gilford progeria syndrome, atypical
Hutchinson-Gilford progeria syndrome, childhood-onset
Hutchinson-Gilford syndrome
Hyaline body myopathy
Hyaline fibromatosis syndrome
Hyalinosis infantile
Hydatidiform mole
Hydatidiform mole, recurrent, 1
Hydranencephaly
Hydranencephaly and epilepsy
Hydrocele pulmonary valve stenosis hypertophic cardiomyopathy hydronephrosis and joint laxity
Hydrocephalus
Hydrocephalus Hydronephrosis
Hydrocephalus MASA
Hydrocephalus X linked
Hydrocephalus and encephalocele
Hydrocephalus congenital with other structural brain abnormalities
Hydrocephalus due to aqueductal stenosis
Hydrocephalus dysplastic fourth ventricle vermis hypoplasia lissencephaly and fold in brainstem
Hydrocephalus internus
Hydrocephalus nonsyndromic
Hydrocephalus, X-linked, with hirschsprung disease
Hydrocephalus, congenital communicating, 1
Hydrocephalus, nonsyndromic, autosomal recessive 2
Hydrocephaly and dysgenesis of the corpus callosum
Hydrocephaly global developmental delay and renal agenesis
Hydrolethalus syndrome
Hydronephrosis congenital
Hydrops
Hydrops fetalis
Hydrops fetalis fetal ascites and pleural effusion
Hydrops fetalis in diamond blackfan anemia
Hydrops fetalis in hennekam lymphangiectasia lymphedema syndrome 1
Hydrops fetalis nonimmune
Hydrops fetalis nonimmune & congenital heart disease
Hydrops fetalis polyhydramnios and increased nuchal translucency
Hydrops foetal
Hydrops lactic acidosis and sideroblastic anemia/Perrault syndrome 4
Hydrops lactic acidosis sideroblastic anaemia & multisystem failure
Hydrops polyhydramnios unilateral club foot diaphragmatic hernia & absent stomach
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hydroxyglutaric aciduria combined D 2 & L 2
Hydroxykynureninuria
Hydroxyprolinaemia
Hyper CK aemia
Hyper IgD periodic fever syndrome
Hyper IgD periodic fever syndrome modifier of
Hyper IgE syndrome
Hyper IgE syndrome autosomal recessive
Hyper IgE syndrome with impaired T cell function
Hyper IgM syndrome
Hyper IgM syndrome autosomal dominant
Hyper IgM syndrome type 2
Hyper beta aminoisobutyric aciduria
Hyper-IgE recurrent infection syndrome 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
Hyper-IgE recurrent infection syndrome 4, autosomal recessive
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 5
HyperCKaemia
HyperCKaemia & muscular dystrophy
HyperCKaemia asymptomatic
HyperCKaemia developmental delay epilepsy and brain abnormality
HyperCKemia
Hyperacusis in autism spectrum disorder increased risk
Hyperaldosteronism & early onset hypertension
Hyperaldosteronism type II
Hyperaldosteronism type III
Hyperalphalipoproteinaemia
Hyperalphalipoproteinemia
Hyperammonaemia
Hyperammonaemic encephalopathy valproate induced
Hyperammonemia, type III
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperandrogenism
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Hyperargininaemia
Hyperbilirubinaemia
Hyperbilirubinaemia adult
Hyperbilirubinaemia neonatal
Hyperbilirubinaemia unconjugated
Hypercalcaemia
Hypercalcaemia and hypercalciuria
Hypercalcaemia hypocalciuric
Hypercalcaemia hypocalciuric & hyperparathyroidism
Hypercalcaemia hypocalciuric & hypoparathyroidism
Hypercalcaemia hypocalciuric type 2
Hypercalcaemia hypocalciuric type 3
Hypercalcaemia idiopathic infantile
Hypercalcaemia increased risk
Hypercalcaemia infantile
Hypercalcemia, infantile, 1
Hypercalcemia, infantile, 2
Hypercalciuria
Hypercalciuria & hypomagnesaemia with amelogenesis imperfecta & nephrocalcinosis
Hypercalciuria hypocalcaemic
Hypercalciuria hypocalcaemic with atypical skeletal rickets
Hypercalciuria, childhood, self-limiting
Hypercalciuric nephrolithiasis
Hypercarotenemia and hypovitaminosis A
Hypercatabolic hypoproteinaemia familial
Hyperchlorhidrosis
Hypercholanaemia
Hypercholanemia, familial 1
Hypercholesterolaemia
Hypercholesterolaemia autosomal dominant
Hypercholesterolaemia autosomal recessive
Hypercholesterolaemia modifier of
Hypercholesterolemia, autosomal dominant, 3
Hypercholesterolemia, autosomal dominant, type B
Hypercholesterolemia, familial, 1
Hypercholesterolemia, familial, 4
Hyperchylomicronaemia
Hyperechogenic kidneys
Hyperekplexia
Hyperekplexia 1
Hyperekplexia 2
Hyperekplexia 3
Hyperekplexia and epilepsy
Hyperekplexia and mental retardation
Hyperekplexia and refractory status epilepticus
Hyperekplexia modifier
Hyperekplexia with weird laughing
Hyperemesis gravidarum
Hypereosinophilic syndrome
Hypereosinophilic syndrome, idiopathic, resistant to imatinib
Hyperferritinaemia
Hyperglipemia
Hyperglucagonaemia and alpha cell hyperplasia
Hyperglycaemia
Hyperglycaemia in obese patients reduced risk
Hyperglycaemia insulin responsive
Hyperglycemia
Hyperglycinaemia non ketotic
Hyperglycinuria and nephrolithiasis
Hypergonadotropic hypogonadism
Hyperhomocysteinaemia
Hyperimmunoglobulin D syndrome
Hyperimmunoglobulin D with periodic fever
Hyperinsulinaemia
Hyperinsulinaemic hypoglycaemia
Hyperinsulinaemic hypoglycaemia & diabetes
Hyperinsulinemia
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinism
Hyperinsulinism & hypopituitarism with craniofacial & endoderm derived organ abnormalities
Hyperinsulinism and hemihypertrophy
Hyperinsulinism and hypopituitarism
Hyperinsulinism diffuse congenital
Hyperinsulinism focal congenital
Hyperinsulinism hyperammonaemia syndrome
Hyperinsulinism late presentation
Hyperinsulinism of infancy
Hyperinsulinism primary hyperaldosteronism & hypotonia
Hyperinsulinism-hyperammonemia syndrome
Hyperinsulism
Hyperintensity of cerebral white matter on MRI
Hyperkalaemic hypertension
Hyperkalaemic periodic paralysis
Hyperkeratosis syndrome fatal
Hyperkinesia
Hyperkinetic movement disorder
Hyperlipidaemia
Hyperlipidaemia & retinitis pigmentosa
Hyperlipidaemia 3
Hyperlipidaemia with pancreatitis
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia, familial combined, LPL related
Hyperlipoproteinaemia
Hyperlipoproteinaemia I
Hyperlipoproteinemia
Hyperlipoproteinemia type V
Hyperlipoproteinemia, type 1D
Hyperlipoproteinemia, type I
Hyperlipoproteinemia, type III, due to APOE2
Hyperlysinaemia
Hyperlysinemia
Hypermanganesaemia and progressive dystonia
Hypermanganesaemia dystonia and iron deficiency anaemia
Hypermanganesaemia polycythaemia dystonia and hypotonia
Hypermanganesaemia polycythaemia dystonia and liver cirrhosis
Hypermanganesemia with dystonia 2
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Hypermethioninaemia
Hypermethioninaemia with S adenosylhomocysteine hydrolase deficiency
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Hyperopia high
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis cranialis interna
Hyperostosis hyperphosphatemia syndrome
Hyperoxaluria
Hyperoxaluria II
Hyperoxaluria II and atypical haemolytic uraemic syndrome
Hyperoxaluria primary type I
Hyperoxaluria primary type III
Hyperparathyroidism
Hyperparathyroidism & ventricular tachyarrhythmia
Hyperparathyroidism 1
Hyperparathyroidism 4
Hyperparathyroidism acromegaly and neuroendocrine tumour
Hyperparathyroidism isolated
Hyperparathyroidism jaw tumour syndrome
Hyperparathyroidism neonatal primary
Hyperparathyroidism neonatal severe
Hyperparathyroidism primary
Hyperparathyroidism, transient neonatal
Hyperphagia and obesity early onset
Hyperphalangism facial anomalies and bronchomalacia
Hyperphenylalaninaemia
Hyperphenylalaninaemia benign
Hyperphenylalaninaemia dystonia & intellectual disability
Hyperphenylalaninaemia mild
Hyperphenylalaninemia
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Hyperphosphatasemia with bone disease
Hyperphosphatasia mental retardation syndrome
Hyperphosphatasia with intellectual disability syndrome 1
Hyperphosphatasia with intellectual disability syndrome 2
Hyperphosphatasia with intellectual disability syndrome 3
Hyperphosphatasia with intellectual disability syndrome 4
Hyperphosphatasia with intellectual disability syndrome 5
Hyperphosphatasia with intellectual disability syndrome 6
Hyperphosphatasia with mental retardation syndrome
Hyperphosphatasia with mental retardation syndrome 4
Hyperproinsulinaemia
Hyperproinsulinemia
Hyperprolactinaemia
Hyperprolinaemia
Hyperprolinaemia 2
Hypertelorism & high myopia
Hypertelorism, Teebi type
Hypertension
Hypertension & brachydactyly syndrome
Hypertension dominant with brachydactyly
Hypertension early onset
Hypertension early onset exacerbated in pregnancy
Hypertension hypokalemic
Hypertension in drinkers
Hypertension in pregnancy
Hypertension protection against
Hypertension reduced risk
Hypertension response to verapamil
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
Hypertensive dilated cardiomyopathy
Hypertensive disorder
Hyperthermia fatal infantile
Hyperthermia malignant
Hyperthyroidism
Hyperthyroidism gestational
Hyperthyrotropinaemia nonautoimmune isolated
Hyperthyroxinemia, familial dysalbuminemic
Hypertonia & seizures neonatal onset
Hypertonia Spasticity Muscle weakness
Hypertransaminasaemia myopathy myoclonic epilepsy cardiomyopathy and multiple respiratory chain complex deficiency
Hypertransaminasaemia persistent
Hypertrichosis and acromegaloid facial features without cardiac or skeletal anomalies
Hypertrichotic osteochondrodysplasia Cantu type
Hypertriglyceridaemia
Hypertriglyceridaemia infantile
Hypertriglyceridemia
Hypertriglyceridemia, familial
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy & lactic acidosis
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy 10
Hypertrophic cardiomyopathy 11
Hypertrophic cardiomyopathy 12
Hypertrophic cardiomyopathy 13
Hypertrophic cardiomyopathy 15
Hypertrophic cardiomyopathy 16
Hypertrophic cardiomyopathy 17
Hypertrophic cardiomyopathy 2
Hypertrophic cardiomyopathy 20
Hypertrophic cardiomyopathy 25
Hypertrophic cardiomyopathy 26
Hypertrophic cardiomyopathy 3
Hypertrophic cardiomyopathy 4
Hypertrophic cardiomyopathy 6
Hypertrophic cardiomyopathy 7
Hypertrophic cardiomyopathy 8
Hypertrophic cardiomyopathy 9
Hypertrophic cardiomyopathy and complex I deficiency
Hypertrophic cardiomyopathy childhood onset
Hypertrophic cardiomyopathy early onset
Hypertrophic cardiomyopathy fatal infantile
Hypertrophic cardiomyopathy fatal neonatal
Hypertrophic cardiomyopathy lactic acidosis & encephalopathy
Hypertrophic cardiomyopathy lactic acidosis and respiratory chain deficiency
Hypertrophic cardiomyopathy myocardial noncompaction & transmural crypts
Hypertrophic cardiomyopathy regression of gross motor development leucoencephalopathy and hepatic steatosis
Hypertrophic cardiomyopathy with mid ventricular obstruction
Hypertrophic osteoarthropathy primary
Hypertrophic osteoarthropathy primary with digital clubbing
Hypertrophic osteoarthropathy, primary, autosomal dominant
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
Hypertrophy left ventricular
Hypertrophy left ventricular & fibrosis
Hypertrophy left ventricular and sudden cardiac death
Hypertrophy moderate
Hypertrypsinaemia low sweat chloride
Hypertrypsinaemia neonatal
Hypertryptophanemia
Hyperuricaemia
Hyperuricaemia & gout
Hyperuricaemia HPRT1 related
Hyperuricaemia and gout
Hyperuricaemia developmental delay & facial dysmorphisms
Hyperuricaemia gout and hyperpyrexia
Hyperuricaemia with neurologic symptoms
Hyperuricaemia without neurologic symptoms
Hyperuricaemic nephropathy
Hyperuricaemic nephropathy juvenile
Hyperuricemia pulmonary hypertension renal failure & alkalosis
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperuricemic nephropathy, familial juvenile type 4
Hypervalinaemia & hyperleucine isoleucinaemia
Hypervalinemia and hyperleucine-isoleucinemia
Hypoadiponectinaemia
Hypoadiponectinemia
Hypoaldosteronism
Hypoalgaesia
Hypoalphalipoproteinaemia
Hypoalphalipoproteinemia, primary, 1
Hypoalphalipoproteinemia, primary, 2
Hypobetalipoproteinaemia
Hypobetalipoproteinaemia induced nonalcoholic steatohepatitis
Hypocalcaemia
Hypocalcaemia adrenal hyperplasia hypertension nephrolithiasis & diabetes
Hypocalcaemia autosomal dominant
Hypocalcaemia type 2 autosomal dominant
Hypocalcaemia with Bartter syndrome
Hypocalcaemia with hypercalciuria
Hypochloraemic alkalosis
Hypocholesterolaemia
Hypocholinesterasaemia
Hypochondrogenesis
Hypochondroplasia
Hypochromic microcytic anaemia & haemosiderosis
Hypodontia
Hypodontia non syndromic
Hypodysfibrinogenaemia
Hypofibrinogenaemia
Hypofibrinogenaemia with hepatic storage
Hypofibrinogenemia
Hypogammaglobulinaemia
Hypogammaglobulinaemia early onset with autoimmunity & inflammatory bowel disease
Hypoglycaemia
Hypoglycaemia and hypothyroidism
Hypoglycaemia hepatopathy and growth retardation
Hypoglycaemia hyperinsulinaemic
Hypoglycaemia ketotic
Hypoglycaemia macrocephaly developmental delay short stature and coagulopathy
Hypoglycaemia persistent hyperinsulinaemic
Hypoglycemia Metabolic acidosis Hyperactivity
Hypogonadism
Hypogonadism male
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism & ocular malformation
Hypogonadotropic hypogonadism 1 with or without anosmia
Hypogonadotropic hypogonadism 10 without anosmia
Hypogonadotropic hypogonadism 11 with or without anosmia
Hypogonadotropic hypogonadism 13 with or without anosmia
Hypogonadotropic hypogonadism 14 with anosmia
Hypogonadotropic hypogonadism 14 with or without anosmia
Hypogonadotropic hypogonadism 17 with or without anosmia
Hypogonadotropic hypogonadism 18 with anosmia
Hypogonadotropic hypogonadism 2 with anosmia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 20 with or without anosmia
Hypogonadotropic hypogonadism 20 without anosmia
Hypogonadotropic hypogonadism 21 with or without anosmia
Hypogonadotropic hypogonadism 22 with anosmia
Hypogonadotropic hypogonadism 24 without anosmia
Hypogonadotropic hypogonadism 3 with or without anosmia
Hypogonadotropic hypogonadism 4 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypogonadotropic hypogonadism 6 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
Hypogonadotropic hypogonadism 8 without anosmia
Hypogonadotropic hypogonadism ataxia & dementia
Hypogonadotropic hypogonadism idiopathic
Hypogonadotropic hypogonadism idiopathic normosmic
Hypogonadotropic hypogonadism intellectual disability and facial dysmorphic features
Hypogonadotropic hypogonadism isolated
Hypogonadotropic hypogonadism normosmic
Hypogonadotropic hypogonadism normosmic idiopathic
Hypogonadotropic hypogonadism normosmic with cleft lip and palate
Hypogonadotropic hypogonadism normosmic with primary amenorrhoea
Hypogonadotropic hypogonadism with CHARGE like features
Hypogonadotropic hypogonadism with split hand/foot malformation
Hypogonadotropic hypogonadism-27 without anosmia
Hypohidrotic X-linked ectodermal dysplasia
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalaemia & hypermagnesaemia
Hypokalaemic periodic paralysis
Hypokalaemic periodic paralysis and myotonia
Hypokalaemic periodic paralysis and seizures
Hypokalaemic periodic paralysis sporadic
Hypokalaemic periodic paralysis with malignant hyperthermia susceptibility 5
Hypokalemia hyponatremia and ambiguous genitalia
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypokinetic hypotonic syndrome infantile
Hypolipidaemia combined
Hypolipidaemia primary combined
Hypomagnesaemia
Hypomagnesaemia and epileptic encephalopathy
Hypomagnesaemia renal
Hypomagnesaemia with hypercalciuria and nephrocalcinosis
Hypomagnesaemia with secondary hypocalcaemia
Hypomagnesemia
Hypomagnesemia & tetany
Hypomagnesemia hypercalciuria syndrome
Hypomagnesemia isolated
Hypomagnesemia renal failure & severe ocular abnormalities
Hypomagnesemia, seizures, and intellectual disability 1
Hypomagnesemia, seizures, and intellectual disability 2
Hypomaturation amelogenesis imperfecta
Hypomaturation enamel defects
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomegakaryocytic thrombocytopaenia
Hypomyelinating central nervous system disorder with peripheral neuropathy
Hypomyelinating leukodystrophy
Hypomyelinating leukodystrophy 10
Hypomyelinating leukodystrophy 11
Hypomyelinating leukodystrophy 13
Hypomyelinating leukodystrophy 2
Hypomyelinating leukodystrophy 4
Hypomyelinating leukodystrophy 6
Hypomyelinating leukodystrophy 8
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy 9
Hypomyelinating leukodystrophy and spondylometaphyseal dysplasia
Hypomyelinating leukodystrophy type 2
Hypomyelinating neuropathy
Hypomyelination
Hypomyelination & congenital cataract
Hypomyelination & developmental delay
Hypomyelination cerebellar atrophy & corpus callosum hypoplasia
Hypomyelination hypodontia & hypogonadotropic hypogonadism
Hypomyelination hypodontia & hypogonadotropic hypogonadism with late onset growth hormone deficiency
Hypomyelination of early myelinating structures
Hypomyelination transient
Hypomyelination with atrophy of the basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypomyelination with cerebellar atrophy
Hyponatraemia
Hyponatraemia precocious puberty and skeletal abnormalities
Hyponatraemia thiazide induced
Hyponatremia hypokalemia hypochloremia & hypomagnesemia
Hypoparathyroidism
Hypoparathyroidism & hypocalcaemia
Hypoparathyroidism and deafness
Hypoparathyroidism autosomal dominant
Hypoparathyroidism deafness and renal dysplasia
Hypoparathyroidism familial isolated
Hypoparathyroidism infantile onset & peripheral polyneuropathy
Hypoparathyroidism without APECED
Hypoparathyroidism, deafness, renal disease syndrome
Hypoparathyroidism, familial isolated 1
Hypoparathyroidism, familial isolated, 2
Hypophosphataemia
Hypophosphataemia & nephrocalcinosis
Hypophosphataemia X linked
Hypophosphataemia dental anomalies & ectopic calcification
Hypophosphataemia with bowing of bilateral femurs and hyperparathyroidism
Hypophosphataemic kidney stones with osteoporosis
Hypophosphataemic nephrolithiasis/osteoporosis 1/Fanconi syndrome
Hypophosphataemic osteosclerosis hyperostosis & enthesopathy
Hypophosphataemic rickets with hypercalciuria
Hypophosphatasia
Hypophosphatasia perinatal
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypophosphatemic rickets
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation, organomegaly, and delayed myelination and development
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypopituitarism
Hypopituitarism and septo optic dysplasia
Hypopituitarism glucose dysregulation and mild learning difficulties
Hypopituitarism with growth hormone deficiency
Hypopituitarism with pituitary stalk interruption
Hypoplasia of the corpus callosum
Hypoplastic aortic arch
Hypoplastic coronary artery disease
Hypoplastic left heart syndrome
Hypoplastic left heart with reduced ejection fraction
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypoplastic right heart syndrome
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypospadias
Hypospadias & partial anomalous pulmonary venous return
Hypospadias 1, X-linked
Hypospadias and cryptorchidism
Hypospadias mild
Hypospadias non syndromic
Hypothalamic amenorrhea
Hypothalamic hamartomas and polydactyly syndrome
Hypothalamo pituitary gonadal axis abnormalities
Hypothyroidism
Hypothyroidism and goiter
Hypothyroidism and neonatal respiratory failure
Hypothyroidism congenital
Hypothyroidism due to TSH receptor mutations
Hypothyroidism early onset non autoimmune
Hypothyroidism subclinical
Hypothyroidism transient
Hypothyroidism with ectopic thyroid gland
Hypothyroidism with enlarged vestibular aqueduct
Hypothyroidism, congenital, nongoitrous, 2
Hypothyroidism, congenital, nongoitrous, 5
Hypothyroidism, congenital, nongoitrous, 7
Hypothyroidism, thyroidal, with spiky hair and cleft palate
Hypotonia
Hypotonia & apnoea
Hypotonia & joint hyperlaxity
Hypotonia & leukodystrophy
Hypotonia & muscle weakness
Hypotonia & seizures
Hypotonia Exercise intolerance/Easy fatigue Muscle weakness Creatine phosphokinase abnormalities
Hypotonia West syndrome & global developmental delay
Hypotonia and developmental delay
Hypotonia and encephalopathy
Hypotonia and muscle weakness and atrophy
Hypotonia and neurodevelopmental delay
Hypotonia and speech delays
Hypotonia ataxia eye abnormalities & developmental delay
Hypotonia axial
Hypotonia cognitive impairment hyperkinetic movement and progressive optic atrophy
Hypotonia congenital myopathy respiratory symptoms marked contractures of hips knee and ankles decreased fetal movements polyhydramnios
Hypotonia deafness feeding difficulties and lactic acidosis
Hypotonia developmental delay & intellectual disability
Hypotonia developmental delay & vocal chord paralysis
Hypotonia developmental delay intellectual disability & autism
Hypotonia dyskinesia & sensorineural deficiencies & mitochondrial complex I instability
Hypotonia epilepsy & abnormal MRI
Hypotonia epilepsy developmental delay and digit abnormalities
Hypotonia exercise intolerance muscle weakness congenital contractures
Hypotonia facial dysmorphism and retardation
Hypotonia hyper reflexia ataxia dystonia and white matter abnormalities
Hypotonia infantile with psychomotor retardation and characteristic facies
Hypotonia intellectual disability and motor axonal & auditory neuropathy
Hypotonia intellectual disability behavioural disorder and facial dysmorphism
Hypotonia microcephaly and global developmental delay
Hypotonia motor delay absent deep tendon reflexes & sensorineural hearing loss
Hypotonia muscle weakness hypoplasia of muscles contractures micrognathia large fontanel
Hypotonia muscle weakness motor delay
Hypotonia myoclonus & apnoea
Hypotonia neonatal
Hypotonia neonatal failure to thrive intellectual disability and hypotonia muscular
Hypotonia optic nerve hypoplasia hearing loss and behavioural anomalies
Hypotonia seizures & developmental delay
Hypotonia seizures and developmental delay
Hypotonia seizures and encephalopathy
Hypotonia sensory neuropathy deafness and leucodystrophy
Hypotonia severe neonatal and developmental delay
Hypotonia weakness delayed milestones and neurological impairment
Hypotonia wide spread joint hyperlaxity & myopathy
Hypotonia with infantile spasms and strabismus
Hypotonia with lactic acidemia and hyperammonemia
Hypotonia with psychomotor retardation & characteristic facies 2
Hypotonia, ataxia, and delayed development syndrome
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Hypotony cardiomyopathy and complex I deficiency
Hypotony motor development retardation hyperglycaemia & complex IV deficiency
Hypotony seizures and suspicion of muscular dystrophy
Hypotony sideroblastic anaemia progressive encephalopathy complex IV deficiency increased iron level and mtDNA depletion
Hypotransferrinemia
Hypotrichosis
Hypotrichosis / woolly hair
Hypotrichosis 1
Hypotrichosis 11
Hypotrichosis 12
Hypotrichosis 13
Hypotrichosis 14
Hypotrichosis 3
Hypotrichosis 6
Hypotrichosis 8
Hypotrichosis Lymphoedema Telangiectasia
Hypotrichosis and nail dystrophy
Hypotrichosis and woolly hair
Hypotrichosis simplex
Hypotrichosis simplex autosomal dominant
Hypotrichosis with juvenile macular dystrophy
Hypotrichosis with keratosis follicular and hyperostosis
Hypotrichosis with woolly hair
Hypotrichosis/monilethrix
Hypotriglyceridemia
Hypouricaemia
Hypouricaemia juvenile onset
Hypouricaemia renal
Hypouricaemia renal type 1
Hypouricaemia renal with Fanconi syndrome
Hypouricemia, renal, 2
Hypoxanthine guanine phosphoribosyltransferase deficiency
Hypoxia tolerance
I blood group variation
IARS2 related disorder
IBMPFD / Amyotrophic lateral sclerosis
IFAP syndrome with or without BRESHECK syndrome
IFN gamma response to Rubella
IFNGR1 deficiency
IGSF1 deficiency syndrome
IL 17RA deficiency with bacterial and fungal infections
IL12RB1 deficiency
IL2 inducible T cell kinase deficiency
IL21-related infantile inflammatory bowel disease
IL21R deficiency
IL6 levels
IMAGE syndrome
IMAGe syndrome
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
INTERSTITIAL LUNG DISEASE 1
IPEX like syndrome
IPEX syndrome
IQSEC2 related disorder
IRAK4 deficiency
IRF4 deficiency
IRF9 deficiency
ITPase deficiency
IUGR generalized seizures absence seizures forehead bossing maxillary prominence
Ichthyosiform erythroderma
Ichthyosiform erythroderma blaschkoid
Ichthyosiform erythroderma congenital
Ichthyosiform erythroderma congenital nonbullous
Ichthyosiform erythroderma corneal involvement & deafness
Ichthyosiform erythroderma nonbullous 1
Ichthyosis
Ichthyosis Abnormal pigmentation eczema hair loss
Ichthyosis and Kindler syndrome
Ichthyosis autosomal recessive
Ichthyosis autosomal recessive with hypotrichosis
Ichthyosis bathing suit
Ichthyosis bullosa Siemens
Ichthyosis bullosa of Siemens
Ichthyosis congenital autosomal recessive
Ichthyosis deafness and photophobia
Ichthyosis failure to thrive & microcephaly
Ichthyosis follicularis alopecia & photophobia
Ichthyosis follicularis atrichia & photophobia
Ichthyosis follicularis sensorineural hearing loss and punctate palmoplantar keratoderma
Ichthyosis harlequin
Ichthyosis harlequin & thrombocytopaenia
Ichthyosis harlequin like
Ichthyosis harlequin with juvenile idiopathic arthritis
Ichthyosis hystrix Lambert type
Ichthyosis keratinopathic
Ichthyosis lamellar
Ichthyosis lamellar type 2
Ichthyosis prematurity syndrome
Ichthyosis vulgaris
Ichthyosis with confetti
Ichthyosis with epidermolytic hyperkeratosis
Ichthyosis, congenital, autosomal recessive 13
Ichthyosis, congenital, autosomal recessive 14
Ichthyotic keratoderma spasticity hypomyelination & dysmorphic features
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Icthyosis
Icthyosis hypotrichosis syndrome
Idiopathic Pulmonary Fibrosis
Idiopathic REM sleep behaviour disorder
Idiopathic arthritis & mitral valve prolapse
Idiopathic azoospermia
Idiopathic basal ganglia calcification 1
Idiopathic eosinophilic myositis
Idiopathic epilepsy generalised
Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 14
Idiopathic hypospadias
Idiopathic infantile arterial calcification
Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary fibrosis
Idiopathic pulmonary ossification
Idiopathic short stature
Idiopathic short stature reduced risk
Idiopathic transverse myelitis
Idiopathic ventricular fibrillation
IgA and IgG hypogammaglobulinaemia
IgA nephropathy
IgA nephropathy autosomal dominant
Imagawa-Matsumoto syndrome
Imatinib resistance in hypereosinophilic syndrome
Imerslund Gräsbeck syndrome
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 2
Immune deficiency
Immune deficiency and malignancies
Immune deficiency combined and myopathy adult onset
Immune deficiency early onset and autoinflammation
Immune deficiency related enteropathy lymphocytopaenia alopecia syndrome
Immune deficiency with bronchiectasis
Immune disorder
Immune dysfunction autosomal recessive
Immune dysregulation
Immune dysregulation autosomal dominant
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Immune response
Immune thrombocytopaenia
Immune thrombocytopaenia treatment response
Immune thrombocytopaenic purpura
Immunodeficiency
Immunodeficiency & inflammatory bowel disease
Immunodeficiency 14
Immunodeficiency 15a
Immunodeficiency 23
Immunodeficiency 25
Immunodeficiency 26 without neurologic abnormalities
Immunodeficiency 27A
Immunodeficiency 28
Immunodeficiency 31B
Immunodeficiency 32B
Immunodeficiency 33
Immunodeficiency 39
Immunodeficiency 47
Immunodeficiency 49
Immunodeficiency 51
Immunodeficiency 55
Immunodeficiency 60
Immunodeficiency 63 with lymphoproliferation and autoimmunity
Immunodeficiency 64
Immunodeficiency 72 with autoinflammation
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 74, COVID-19-related, X-linked
Immunodeficiency 77
Immunodeficiency 80 with or without congenital cardiomyopathy
Immunodeficiency 84
Immunodeficiency 87 and autoimmunity
Immunodeficiency 89 and autoimmunity
Immunodeficiency 93 and hypertrophic cardiomyopathy
Immunodeficiency 96
Immunodeficiency 97 with autoinflammation
Immunodeficiency Chronic diarrhea Bronchiectasis Pneumonia
Immunodeficiency T cell ve
Immunodeficiency X linked
Immunodeficiency abnormaility of larynx/trachea/bronchus and oedema
Immunodeficiency affecting cellular and humoral immunity.
Immunodeficiency and autoimmune disease
Immunodeficiency and craniosynostosis
Immunodeficiency and hepatopathy with cutis laxa
Immunodeficiency anhidrotic ectodermal dysplasia & myopathy
Immunodeficiency atopy & abnormal inflammatory responses
Immunodeficiency autosomal dominant
Immunodeficiency autosomal recessive
Immunodeficiency cardiomyopathy cardiac pre excitation syndrome myopathy and motoric developmental delay
Immunodeficiency centromeric instability and facial anomalies syndrome
Immunodeficiency centromeric instability and facial anomalies syndrome type 3
Immunodeficiency centromeric instability and facial anomalies syndrome type 4
Immunodeficiency combined
Immunodeficiency combined and autoimmune disease
Immunodeficiency combined and liver disease
Immunodeficiency combined with arthritis
Immunodeficiency combined with granuloma and/or autoimmunity
Immunodeficiency combined with intestinal atresias
Immunodeficiency common variable
Immunodeficiency common variable & lymphoma
Immunodeficiency common variable atypical
Immunodeficiency common variable like disease with autoimmunity
Immunodeficiency common variable modifier
Immunodeficiency due to CD25 deficiency
Immunodeficiency late onset
Immunodeficiency liver disease psychomotor impairment and cutis laxa
Immunodeficiency modifier of
Immunodeficiency motor delay & hypouricaemia
Immunodeficiency muscular hypotonia & anhidrotic ectodermal dysplasia
Immunodeficiency narcolepsy & developmental regression with myoclonus
Immunodeficiency primary
Immunodeficiency primary B cell
Immunodeficiency primary modifier of
Immunodeficiency severe combined
Immunodeficiency severe combined / Wiskott Aldrich Syndrome
Immunodeficiency severe combined B cell ve
Immunodeficiency severe combined T & B cell ve
Immunodeficiency severe combined atypical
Immunodeficiency severe combined early onset
Immunodeficiency severe combined without alopecia
Immunodeficiency severe combined. with pneumothorax
Immunodeficiency squamous cell carcinoma vascular disease & epistaxis
Immunodeficiency with DNA repair defect
Immunodeficiency with hyper IgM
Immunodeficiency with immune dysregulation
Immunodeficiency with lymphoproliferative disease
Immunodeficiency with microcephaly
Immunodeficiency with systemic autoimmunity
Immunodeficiency, common variable, 10
Immunodeficiency, common variable, 14
Immunodeficiency, common variable, 2
Immunodeficiency, common variable, 3
Immunodeficiency, common variable, 7
Immunodeficiency, developmental delay, and hypohomocysteinemia
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Immunoglobulin A nephropathy
Immunoglobulin binding variant
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Immunologically anomalous variant association
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Impaired B cell maturation
Impaired DNA repair
Impaired ENaC regulation
Impaired G protein activation
Impaired Gi protein dependent signalling
Impaired HPA 1a epitope
Impaired S1P binding
Impaired S1P induced endocytosis
Impaired activity
Impaired cardioprotective effects
Impaired catalytic activity
Impaired cell surface expression
Impaired cognitive function
Impaired coumarin metabolism
Impaired diclofenac metabolism
Impaired efavirenz metabolism
Impaired function
Impaired glucose homeostasis
Impaired helicase activity
Impaired inhibition of intracellular cAMP
Impaired kinetics and complex formation
Impaired lecithin:cholesterol acyltransferase activation
Impaired lipid antigen presentation
Impaired low and medium frequency hearing
Impaired membrane trafficking
Impaired mycobacterial immunity
Impaired nicotine metabolism
Impaired nuclear translocation
Impaired polysaccharide responsiveness without agammaglobulinemia
Impaired porphyrin transport
Impaired protein translocation
Impaired receptor binding and activation
Impaired receptor function
Impaired receptor signalling
Impaired repair capacity and reduced transcription
Impaired retroviral defence
Impaired right ventricular function
Impaired secretion
Impaired signalling
Impaired slow inactivation
Impaired spermatogenesis
Impaired supression of ROS production
Impaired taurocholate transport
Impaired transport activity
Impaired visual acuity
Imperforate anus
Impetigo herpetiformis
Improved adduct removal
Improved memory performance
Improved plasma triglyceride clearance
Inactivated PI3K gamma syndrome
Inactive P450 enzyme
Inactivity variant
Inadequate weight gain
Inappropriate sinus tachycardia
Inborn error of cobalamin metabolism
Inborn error of metabolism
Inborn error of vitamin B12 metabolism
Inborn errors of immunity
Inborn errors of metabolism
Inborn genetic diseases
Inborn mitochondrial myopathy
Incident coronary heart disease decreased risk association
Inclusion body myopathy
Inclusion body myopathy & paget disease of bone
Inclusion body myopathy 2
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Inclusion body myositis
Inclusion body myositis sporadic
Incontinentia pigmenti
Incontinentia pigmenti syndrome
Incontinentia pigmenti with immune deficiency
Increased ACE activity
Increased ATPase activity
Increased BMI
Increased CL L1 serum levels
Increased DNA damage
Increased EPHX1 activity
Increased HDL cholesterol
Increased HDL cholesterol and Lp(a)
Increased HDL cholesterol levels
Increased HDL cholesterol levels in hypercholesterolaemia
Increased Hb F levels
Increased Hb F levels and elevated HbA2 level
Increased HbA2 levels
Increased IL 1b release
Increased IgE binding
Increased LRP5 signalling
Increased MyD88 binding / reduced CpG ODN responsiveness
Increased N glycosylation
Increased NF KB activation
Increased NF κB activity
Increased PAR4 induced platelet aggregation
Increased PLAT antigen levels
Increased STAT1 levels
Increased TRIM22 expression and decreased antiviral activity
Increased activity
Increased activity at pH 5 5.75
Increased adhesion of monocytes to endothelial cells
Increased adiposity and inflammation
Increased adult height
Increased antiretroviral activity
Increased apo B levels in a high fat diet
Increased beta cell function
Increased binding affinity
Increased bioactivity
Increased birth weight
Increased bleeding tendency
Increased body mass index
Increased body mass/decreased fasting plasma glucose
Increased bosentan metabolism
Increased bronchial cell proliferation and transformation
Increased catalytic activity
Increased catalytic efficiency
Increased cellular proliferation and PDX 1 overexpression
Increased cholesterol levels
Increased cholesterol transfer into mitochondria
Increased chromosomal instability
Increased chronic pain
Increased ciliogenesis
Increased clot stiffness
Increased concentration of fatty acylcarnitines in plasma
Increased creatine uptake
Increased current and chloride ion transport
Increased current expression
Increased degredation during activation
Increased dental caries in the absence of flouride
Increased doxorubicin resistance
Increased drug resistance
Increased enyzme activity
Increased enzyme activity
Increased erythrocyte folate concentration
Increased expression levels
Increased factor XIII specific activity
Increased fasting proinsulin concentration
Increased ferritin levels
Increased fibrinogen levels
Increased foetal haemoglobin levels
Increased folate levels
Increased fucosyltransferase activity
Increased function
Increased functional potency
Increased genomic instability
Increased glomerular filtration rate
Increased glucocorticoid sensitivity
Increased glucose uptake inhibition
Increased glutmate transport
Increased haemolytic activity
Increased hair thickness in Asians
Increased head circumference
Increased hepatocyte growth factor levels
Increased insulin sensitivity
Increased ion transport activity
Increased left ventricular wall thickness
Increased longevity
Increased lung cancer risk
Increased mature protein levels
Increased maximal 3H proline uptake
Increased methotrexate clearance
Increased multidrug response
Increased muscle size
Increased neuronal translation
Increased nuchal translucency
Increased nuchal translucency absent nasal bone and reverse a wave ductus venosus
Increased nuchal translucency and absent nasal bone
Increased nuchal translucency and cervical incompetence
Increased nuchal translucency and cranial and spinal abnormalities
Increased nuchal translucency and micrognathia
Increased nuchal translucency and mild ventricular disproportion
Increased nuchal translucency and pericardial effusion
Increased nuchal translucency hydrosarca cystic hygroma and short limbs
Increased nuchal translucency hydrosarca cystic hygroma and short long bones
Increased nuchal translucency mild pleural effusion minimal ascites pulmonary hypoplasia and severe oedema
Increased nuchal translucency tricuspid regurgitation & limb defects
Increased oxygen affinity
Increased pH and calcium sensitivity
Increased phagocytosis
Increased plasma FVIII levels
Increased plasma HDL cholesterol
Increased plasma Se levels in males
Increased plasma interferon gamma inducible protein 10 levels methadone morphine induced
Increased plasma total cholesterol levels
Increased plasma triglyceride levels association
Increased polyploid fraction
Increased post stroke mortality
Increased pregnenolone levels
Increased proapo A 1 concentration
Increased proline level in schizophrenia
Increased protein cleavage by ADAMTS13
Increased protein expression
Increased protein stability
Increased pulse pressure
Increased rate of cholesterol synthesis
Increased receptor activity
Increased receptor sensitivity
Increased receptor signalling
Increased recombination rate
Increased response to UV
Increased rigid compulsive behaviour in autism
Increased risk of death in CAD
Increased risk of ischemic heart disease
Increased sensitivity of umami taste receptor
Increased sensitivity to olaparib
Increased serum ACE concentration
Increased serum XT1 activity in pseudoxanthoma elasticum association
Increased serum cholesterol
Increased serum creatine kinase levels
Increased serum creatine levels
Increased serum sulphate levels
Increased serum urate levels
Increased severity in Leber congenital amaurosis
Increased sex hormone binding globulin levels
Increased signal transduction activity
Increased skin pigmentation
Increased stability
Increased substrate uptake
Increased superoxide production
Increased systolic blood pressure
Increased thermal stability
Increased thyroid hormone levels
Increased total TC concentrations
Increased total cholesterol
Increased transactivation potential
Increased transcriptional activity
Increased transferrin saturation
Increased transport activity
Increased transporter activity
Increased triglyceride level in males
Increased triglyceride levels
Increased triglyceride levels in endogenous hypertriglyceridaemic subjects
Increased tumour sensitivity to GHRH
Increased vitamin E {omega} hydroxylase activity to tocopherols
Increased water permeability
Indian blood group variant
Indifference to pain, congenital, autosomal dominant
Ineffective immune response to Enterovirus 71 vaccination
Inefficient assembly
Infant cholestasis
Infant colitis
Infantile GM1 gangliosidosis
Infantile autism
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Infantile cerebellar-retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile cholestasis and early liver failure
Infantile convulsions and choreoathetosis
Infantile convulsions paroxysmal dyskinesia & migraine
Infantile convulsions with paroxysmal choreoathetosis
Infantile cortical hyperostosis
Infantile encephalopathy
Infantile epilepsy cataracts and developmental delay
Infantile epilepsy syndrome
Infantile epilepsy with severe cystic degeneration of the brain
Infantile focal seizures ataxia and early developmental delay
Infantile hepatopathy
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypertrophic pyloric stenosis
Infantile hypophosphatasia
Infantile hypotonia with psychomotor retardation & characteristic facies 2
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Infantile liver failure increased risk
Infantile liver failure syndrome 1
Infantile liver failure syndrome 2
Infantile liver failure syndrome 3
Infantile mitochondrial disease lethal
Infantile mitochondrial disease non lethal
Infantile mitochondrial disorder lethal
Infantile mitochondrial disorder non lethal
Infantile mitochondrial encephalomyopathy hypertrophic cardiomyopathy with optic atrophy
Infantile myofibromatosis
Infantile nephronophthisis
Infantile nephronophthisis & intellectual disability
Infantile neuroaxonal dystrophy
Infantile neuroaxonal dystrophy 1
Infantile neuroaxonal dystrophy with brain iron accumulation
Infantile onset combined immunodeficiency with susceptibility to viral infections
Infantile onset spinocerebellar ataxia
Infantile scoliosis & developmental delay
Infantile seizures
Infantile seizures benign
Infantile seizures benign and paroxysmal dyskinesia
Infantile spasm hypotonia
Infantile spasm with global developmental delay
Infantile spasms
Infantile spasms & complex partial seizures with global developmental delay
Infantile spasms & developmental delay
Infantile spasms and developmental delay
Infantile spasms and epilepsy
Infantile spasms and intellectual disability
Infantile spasms and refractory epilepsy
Infantile spasms intractable epilepsy & cerebellar malformation
Infantile spasms learning disability developmental delay seizures & hypotonia
Infantile spasms with intellectual / developmental disabilities
Infantile spasms with intellectual disability
Infantile-onset X-linked spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Infectious disease protection against
Infertility
Infertility associated with multi-tailed spermatozoa and excessive DNA
Infertility female
Infertility idiopathic
Infertility increased risk
Infertility male
Infertility protection against
Inflammatory bowel disease
Inflammatory bowel disease & B cell non Hodgkin lymphoma
Inflammatory bowel disease 28
Inflammatory bowel disease early onset
Inflammatory bowel disease early/very early onset
Inflammatory bowel disease increased risk
Inflammatory bowel disease infantile onset
Inflammatory bowel disease neonatal onset
Inflammatory bowel disease paediatric
Inflammatory bowel disease protection against
Inflammatory bowel disease risk
Inflammatory bowel disease very early onset
Inflammatory bowel disease very early onset modifier of
Inflammatory bowel disease with fistulizing perianal disease early onset
Inflammatory demyelinating neuropathy
Inflammatory disease
Inflammatory disease recurrent
Inflammatory myopathy
Inflammatory skin and bowel disease, neonatal, 1
Inflammatory skin and bowel disease, neonatal, 2
Inflammatory vitreoretinopathy hearing loss & developmental delay early onset
Influenza virus infection
Influenza virus infection reduced resistance
Infrarenal abdominal aortic calcified plaque
Infuenza infection associated encephalopathy
Inherited Creutzfeldt-Jakob disease
Inherited Immunodeficiency Diseases
Inherited bone marrow failure syndrome
Inherited oocyte maturation defect
Inhibited ACTN4/CLP36 complex formation
Inhibition of prostaglandin H2 formation association
Inner ear malformation
Inner ear malformations & deafness
Inner retinal dystrophy
Insensitivity to glutamate taste
Insensitivity to mifepristone
Instability of lissencephaly protein 1
Insulin like growth factor deficiency
Insulin resistance
Insulin resistance A
Insulin resistance diabetes and hypertension
Insulin resistance mild
Insulin resistance severe
Insulin resistance syndrome
Insulin resistance syndrome type A
Insulin resistant diabetes mellitus with acanthosis nigricans A
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Insulinogenic index
Insulinoma
Insulinomatosis
Intellectual & communication disability
Intellectual and developmental disabilities
Intellectual and developmental disability and short stature
Intellectual deficiency
Intellectual deficit cerebellar atrophy lower limb spasticity & visual disturbance
Intellectual deficit facial dysmorphism and complex movement disorder
Intellectual developmental disorder 60 with seizures
Intellectual developmental disorder 61
Intellectual developmental disorder 62
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Intellectual developmental disorder with cardiac arrhythmia syndrome
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Intellectual developmental disorder with dysmorphic facies and ptosis
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Intellectual developmental disorder with hypertelorism and distinctive facies
Intellectual developmental disorder with hypotonia and behavioral abnormalities
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Intellectual developmental disorder with impaired language and dysmorphic facies
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Intellectual developmental disorder with neuropsychiatric features
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Intellectual developmental disorder with seizures and language delay
Intellectual developmental disorder with short stature and behavioral abnormalities
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Intellectual developmental disorder, autosomal dominant 65
Intellectual developmental disorder, autosomal recessive 67
Intellectual developmental disorder, autosomal recessive 69
Intellectual developmental disorder, autosomal recessive 73
Intellectual disability
Intellectual disability & Troyer syndrome
Intellectual disability & autism spectrum disorder like features
Intellectual disability & autistic features
Intellectual disability & behavioural problems
Intellectual disability & cerebellar hypoplasia
Intellectual disability & dysmorphic features
Intellectual disability & dystonia
Intellectual disability & epilepsy
Intellectual disability & eye movement disorder
Intellectual disability & facial abnormalities
Intellectual disability & hypotonia
Intellectual disability & lissencephaly
Intellectual disability & microcephaly
Intellectual disability & motor abnormalities
Intellectual disability & obesity
Intellectual disability & precocious puberty
Intellectual disability & seizure disorder
Intellectual disability & seizures
Intellectual disability & self mutilation
Intellectual disability & short stature
Intellectual disability & spasms
Intellectual disability & speech delay
Intellectual disability & thyroid dyshormonogenesis
Intellectual disability & young onset parkinsonism
Intellectual disability / developmental delay
Intellectual disability / developmental delay & seizures
Intellectual disability Bain type
Intellectual disability Learning disability
Intellectual disability Learning disability ADHD Hearing loss
Intellectual disability Learning disability Hyperactive Nephrotic syndrome Nystagmus
Intellectual disability Noonan like facies and pulmonary stenosis
Intellectual disability Spinal muscular atrophy like phenotype and hypotonia
Intellectual disability X linked
Intellectual disability X linked & Coffin Lowry syndrome
Intellectual disability X linked & parkinsonism early onset
Intellectual disability X linked Nascimento type
Intellectual disability X linked syndromic
Intellectual disability X linked with features of Ritscher Schinzel/3C syndrome
Intellectual disability ambulation deficits language impairment hypotonia Rett like stereotypies and facial dysmorphism
Intellectual disability and ADHD
Intellectual disability and ataxia
Intellectual disability and autism
Intellectual disability and autism spectrum disorder
Intellectual disability and autism spectrum disorder/autistic traits
Intellectual disability and autistic behaviour
Intellectual disability and behavioural problems
Intellectual disability and cerebellar atrophy
Intellectual disability and ciliopathy
Intellectual disability and corpus callosum agenesis
Intellectual disability and development delay
Intellectual disability and developmental delay
Intellectual disability and developmental delay autosomal recessive
Intellectual disability and developmental delay with craniofacial abnormalities and other anomalies
Intellectual disability and dyslipidaemia
Intellectual disability and dysmorphic features
Intellectual disability and epilepsy
Intellectual disability and epilepsy 3 methylglutaconic aciduria and variable mitochondrial complex V deficiency
Intellectual disability and epileptic encephalopathy
Intellectual disability and hyperphosphatasia
Intellectual disability and hypotonia
Intellectual disability and macrocephaly
Intellectual disability and microcephaly
Intellectual disability and migraine
Intellectual disability and neurologic features
Intellectual disability and retinitis pigmentosa
Intellectual disability and seizures
Intellectual disability and severe myopia
Intellectual disability and spastic paraparesis
Intellectual disability and speech delay
Intellectual disability and speech impairment
Intellectual disability ataxia and cerebellar atrophy
Intellectual disability ataxia cerebellar atrophy coarse facial features and hypertrichosis
Intellectual disability ataxia muscle weakness
Intellectual disability ataxia stroke like episodes & seizures
Intellectual disability atrophic posterior corpus callosum microcephaly
Intellectual disability atrophy of bilateral cerebellum hypoplastic vermis seizures
Intellectual disability autism & seizures
Intellectual disability autism & trigonocephaly
Intellectual disability autism seizures microcephaly feeding difficulties & dysmorphic features
Intellectual disability autism spectrum disorder & epilepsy
Intellectual disability autism spectrum disorder & hearing loss
Intellectual disability autism spectrum disorder and speech impairment
Intellectual disability autism spectrum disorder attention deficit hyperactivity disorder
Intellectual disability autism spectrum disorder seizures and speech impairment
Intellectual disability autism spectrum disorder/autistic traits and epilepsy
Intellectual disability autism spectrum disorder/autistic traits and hypotonia
Intellectual disability autism spectrum disorder/autistic traits epilepsy and hypotonia
Intellectual disability autism spectrum disorder/autistic traits epilepsy and macrocephaly
Intellectual disability autism spectrum disorder/autistic traits epilepsy and microcephaly
Intellectual disability autistic behavior
Intellectual disability autistic behaviour and short stature
Intellectual disability autistic behaviours epilepsy and characteristic facial features
Intellectual disability autistic features speech deficits & hypotonia
Intellectual disability autosomal recessive
Intellectual disability behavioural abnormalities motor/language delay & dysmorphic features
Intellectual disability behavioural problems microcephaly & cardiac defect
Intellectual disability brachydactyly and autism spectrum disorder
Intellectual disability brachydactyly facial dysmorphism
Intellectual disability brain malformations and facial dysmorphism
Intellectual disability brain malformations and platelet anomalies
Intellectual disability brain structural malformations & skin alterations
Intellectual disability cerebellar ataxia myoclonus & dystonia
Intellectual disability cerebellar atrophy and seizures
Intellectual disability cerebellar taxia
Intellectual disability cerebral & cerebellar atrophy and delayed myelination
Intellectual disability cerebral atrophy hypotonia and facial hyperpigmentation
Intellectual disability cerebral atrophy strabismus
Intellectual disability coarse face & hypotonia
Intellectual disability congenital malformations & failure to thrive
Intellectual disability cortical atrophy and seizures
Intellectual disability cortical atrophy colpocephaly seizures
Intellectual disability cortical atrophy microcephaly seizures scoliosis pectus excavatum osteoporosis
Intellectual disability cortical atrophy microphthalmia and autism spectrum disorder
Intellectual disability cortical dysplasia and microcephaly
Intellectual disability delayed motor development and short stature
Intellectual disability delayed speech epilepsy asthma hypotonia & dysmorphic features
Intellectual disability depression anxiety and extreme obesity
Intellectual disability developmental delay & cryptochordism
Intellectual disability developmental delay & dysmorphic features
Intellectual disability developmental delay & hearing impairment
Intellectual disability developmental delay & microcephaly
Intellectual disability developmental delay & speech impairment
Intellectual disability developmental delay & tetralogy of Fallot
Intellectual disability developmental delay and epilepsy
Intellectual disability developmental delay and short stature
Intellectual disability developmental delay cardiac & pulmonary abnormalities craniofacial dysmorphism & cryptochordism
Intellectual disability developmental delay cartilaginous rests & cryptochordism
Intellectual disability developmental delay epilepsy and microcephaly
Intellectual disability developmental delay hypotonia and dysmorphic features
Intellectual disability developmental delay muscular hypotonia & epilepsy
Intellectual disability developmental delay patent ductus arteriosus & renal abnormalities
Intellectual disability developmental delay seizures & hypotonia
Intellectual disability dysmorphic facial features microcephaly restricted growth & eye malformation/visual impairment
Intellectual disability dysmorphic features
Intellectual disability dysmorphic features & behavioural abnormalities
Intellectual disability dysmorphic features & brain malformations
Intellectual disability dysmorphic features and multiple congenital anomalies
Intellectual disability dysmorphic features white matter disease & renal abnormalities
Intellectual disability dysmorphism macrocephaly and small thoraces
Intellectual disability early onset spasticity and cerebellar atrophy
Intellectual disability epilepsy & autism
Intellectual disability epilepsy & cataracts
Intellectual disability epilepsy & facial dysmorphism
Intellectual disability epilepsy & hemiparesis
Intellectual disability epilepsy and ataxia
Intellectual disability epilepsy and behavioural complexities
Intellectual disability epilepsy and hypotonia
Intellectual disability epilepsy and microcephaly
Intellectual disability epilepsy and primary microcephaly
Intellectual disability epilepsy autism
Intellectual disability epilepsy cortical atrophy and cerebellar hypoplasia
Intellectual disability epilepsy macrocephaly and hypotonia
Intellectual disability epilepsy progressive brain atrophy and large head
Intellectual disability facial asymmetry cortical atrophy seizures hypergonadotropic hypogonadism thyroid dysplasia
Intellectual disability facial dysmorphia and delayed speech motor and language development
Intellectual disability facial dysmorphism elastic joints and clinodactyly
Intellectual disability facial dysmorphisms and skeletal and connective tissue abnormalities
Intellectual disability failure to thrive gross and fine motor delay
Intellectual disability familial syndromic
Intellectual disability fine and gross motor delay facial dysmorphism
Intellectual disability focal epilepsy and febrile seizures
Intellectual disability growth failure microcephaly facial dysmorphism & skeletal abnormalities
Intellectual disability growth retardation hepatopathy and hypotonia
Intellectual disability hearing abnormity talipes equinovarus brain atrophy
Intellectual disability hypertonia and esotropia
Intellectual disability hypotonia & behavioural anomalies
Intellectual disability hypotonia & hearing loss
Intellectual disability hypotonia heterotopia and pes equinovarus
Intellectual disability intractable seizure disorder & language delay
Intellectual disability joint hyperlaxity and thin skin
Intellectual disability language impairment & autistic features
Intellectual disability macrocephaly & seizures
Intellectual disability macrocephaly and craniofacial features of FG syndrome
Intellectual disability macrocephaly hyperlaxity of finger joints and hearing loss
Intellectual disability mental retardation and seizures
Intellectual disability microcephaly & hindbrain hypoplasia
Intellectual disability microcephaly & psychomotor retardation
Intellectual disability microcephaly & seizures
Intellectual disability microcephaly & strabismus
Intellectual disability microcephaly and cortical atrophy
Intellectual disability microcephaly and facial dysmorphism
Intellectual disability microcephaly and hypotonia
Intellectual disability microcephaly and pontocerebellar hypoplasia
Intellectual disability microcephaly and postnatal growth failure
Intellectual disability microcephaly and seizures
Intellectual disability microcephaly brain atrophy & thinning of the corpus callosum
Intellectual disability microcephaly brain stem and cerebellum hypoplasia and delayed myelination
Intellectual disability microcephaly cataracts and skeletal defects
Intellectual disability microcephaly cerebellar atrophy
Intellectual disability microcephaly cerebellar atrophy and ataxia
Intellectual disability microcephaly cerebral atrophy Dandy Walker anomaly and axonal type sensoryneural polyneuropathy
Intellectual disability microcephaly cerebral palsy precocious puberty and clinodactyly
Intellectual disability microcephaly cortical atrophy and seizures
Intellectual disability microcephaly cortical atrophy and sensorineural polyneuropathy
Intellectual disability microcephaly cortical atrophy cerebellar atrophy and seizures
Intellectual disability microcephaly cortical dysplasia Dandy Walker encephalocele coloboma.
Intellectual disability microcephaly hypotonia and pectus excavatum
Intellectual disability microcephaly hypotonia cerebellar atrophy and nystagmus
Intellectual disability microcephaly left frontotemporal atrophy cerebellar atrophy and seizures
Intellectual disability microcephaly motor and speech delay
Intellectual disability microcephaly seizures & malformation of cortical development
Intellectual disability microcephaly seizures & spastic ataxia
Intellectual disability microcephaly seizures epileptic spasms cortical development malformation & visual impairment
Intellectual disability mild
Intellectual disability mild cerebellar atrophy and seizures
Intellectual disability moderate with facial dysmorphism and seizures
Intellectual disability movement disorder developmental delay
Intellectual disability myoclonus epilepsy and peripheral neuropathy
Intellectual disability non syndromic
Intellectual disability nonsyndromic
Intellectual disability nonsyndromic & seizures
Intellectual disability nonsyndromic X linked
Intellectual disability nonsyndromic autosomal recessive
Intellectual disability nonsyndromic no cardiac involvement
Intellectual disability overweight syndrome
Intellectual disability pachygyria
Intellectual disability polyneuropathy & ptosis
Intellectual disability poor speech ADHD and scoliosis
Intellectual disability ptosis & facial dysmorphism
Intellectual disability reduced brain growth & progressive motor symptoms
Intellectual disability seizures agression & anxiety
Intellectual disability seizures and ataxia
Intellectual disability seizures and autistic features
Intellectual disability seizures and speech impairment
Intellectual disability seizures autism dysmorphisms & other anomalies
Intellectual disability seizures encephalopathy
Intellectual disability seizures epileptic spasms & malformation of cortical development
Intellectual disability seizures epileptic spasms & microcephaly
Intellectual disability seizures gastroesophageal reflux Wolf Parkinson White Syndrome & periventricular leukomalacia
Intellectual disability seizures hypotonia abnormal facial shape & short stature
Intellectual disability seizures microcephaly
Intellectual disability seizures tetraparaparesis & microcephaly
Intellectual disability seizures visual impairment and dystonic and athetoid movements
Intellectual disability sensorineural hearing loss skeletal defects and primary ovarian failure.
Intellectual disability severe
Intellectual disability severe automutilation and epilepsy
Intellectual disability severe microcephaly cortical dysplasia agyria and pachygyria
Intellectual disability severe syndromic
Intellectual disability severe with hypotonia encephalopathy and growth retardation
Intellectual disability severe with movement disorder
Intellectual disability severe with movement disorder and seizures
Intellectual disability short stature and coloboma with cardiac renal and skeletal features
Intellectual disability short stature and facial dysmorphism
Intellectual disability short stature and microcephaly with skeletal features
Intellectual disability short stature craniofacial & external genital abnormalities
Intellectual disability short stature developmental delay vomiting growth hormone deficiency
Intellectual disability short stature microcephaly and hypogonadism
Intellectual disability short stature motor and speech delay
Intellectual disability sialuria related
Intellectual disability spastic paraparesis and cerebellar atrophy
Intellectual disability spastic paraplegia axon neuropathy & leukoencephalopathy
Intellectual disability spasticity agenesis of corpus callosum
Intellectual disability speech delay and craniofacial and eye malformations
Intellectual disability speech delay and dysmorphic features
Intellectual disability speech delay facial dysmorphism and polydactyly
Intellectual disability speech delay hypotonia facial dysmorphism autism spectrum disorder & strabismus
Intellectual disability speech impairment microcephaly hypotonia prematurity & elevation of liver enzymes in infancy
Intellectual disability speech impairment seizures and dystonia
Intellectual disability syndrome
Intellectual disability syndromic
Intellectual disability syndromic X linked
Intellectual disability syndromic with severe microcephaly growth retardation and epilepsy
Intellectual disability syntelencephaly Wormian bone focal alopecia
Intellectual disability tall stature and macrocephaly
Intellectual disability transient brain ischemia and cardiac hypertrophy with progressive gait disturbance
Intellectual disability vision problems and hyperkinesia
Intellectual disability with Long QT
Intellectual disability with ataxia
Intellectual disability with autistic & aggressive behaviours
Intellectual disability with creatine transporter deficiency
Intellectual disability with developmental delay and hypotonia autosomal recessive
Intellectual disability with epilepsy
Intellectual disability with facial dysmorphism
Intellectual disability with growth delay and seizures
Intellectual disability with macrocephaly and macro orchidism
Intellectual disability with mental health issues
Intellectual disability with neuronal migration defects
Intellectual disability with or without seizures and gait abnormalities
Intellectual disability with overgrowth
Intellectual disability with parkinsonism
Intellectual disability with perturbed sleep patterns
Intellectual disability with progressive motor impairment
Intellectual disability with progressive spasticity
Intellectual disability with progressive tremor speech impairment & behavioural problems
Intellectual disability with seizures & dysmorphic features
Intellectual disability with seizures & hypotonia
Intellectual disability with severe speech impairment & behavioural problems
Intellectual disability with skewed X inactivation
Intellectual disability without neurodegeneration
Intellectual disability, CASK-related, X-linked
Intellectual disability, X-linked 1
Intellectual disability, X-linked 100
Intellectual disability, X-linked 101
Intellectual disability, X-linked 102
Intellectual disability, X-linked 104
Intellectual disability, X-linked 105
Intellectual disability, X-linked 106
Intellectual disability, X-linked 19
Intellectual disability, X-linked 30
Intellectual disability, X-linked 41
Intellectual disability, X-linked 49
Intellectual disability, X-linked 50
Intellectual disability, X-linked 61
Intellectual disability, X-linked 63
Intellectual disability, X-linked 90
Intellectual disability, X-linked 93
Intellectual disability, X-linked 96
Intellectual disability, X-linked 97
Intellectual disability, X-linked 99
Intellectual disability, X-linked 99, syndromic, female-restricted
Intellectual disability, X-linked syndromic, Turner type
Intellectual disability, X-linked, syndromic 33
Intellectual disability, X-linked, syndromic, 35
Intellectual disability, X-linked, syndromic, bain type
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, X-linked, with panhypopituitarism
Intellectual disability, autosomal dominant 10
Intellectual disability, autosomal dominant 11
Intellectual disability, autosomal dominant 13
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability, autosomal dominant 20
Intellectual disability, autosomal dominant 22
Intellectual disability, autosomal dominant 24
Intellectual disability, autosomal dominant 27
Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 30
Intellectual disability, autosomal dominant 33
Intellectual disability, autosomal dominant 38
Intellectual disability, autosomal dominant 39
Intellectual disability, autosomal dominant 4
Intellectual disability, autosomal dominant 41
Intellectual disability, autosomal dominant 42
Intellectual disability, autosomal dominant 45
Intellectual disability, autosomal dominant 46
Intellectual disability, autosomal dominant 47
Intellectual disability, autosomal dominant 48
Intellectual disability, autosomal dominant 5
Intellectual disability, autosomal dominant 50
Intellectual disability, autosomal dominant 51
Intellectual disability, autosomal dominant 52
Intellectual disability, autosomal dominant 53
Intellectual disability, autosomal dominant 56
Intellectual disability, autosomal dominant 57
Intellectual disability, autosomal dominant 58
Intellectual disability, autosomal dominant 6
Intellectual disability, autosomal dominant 8
Intellectual disability, autosomal dominant 9
Intellectual disability, autosomal recessive 12
Intellectual disability, autosomal recessive 13
Intellectual disability, autosomal recessive 14
Intellectual disability, autosomal recessive 18
Intellectual disability, autosomal recessive 2
Intellectual disability, autosomal recessive 27
Intellectual disability, autosomal recessive 43
Intellectual disability, autosomal recessive 46
Intellectual disability, autosomal recessive 5
Intellectual disability, autosomal recessive 50
Intellectual disability, autosomal recessive 51
Intellectual disability, autosomal recessive 52
Intellectual disability, autosomal recessive 57
Intellectual disability, autosomal recessive 58
Intellectual disability, autosomal recessive 60
Intellectual disability, autosomal recessive 63
Intellectual disability, autosomal recessive 64
Intellectual disability, autosomal recessive 65
Intellectual disability, autosomal recessive 66
Intellectual disability, mild
Intellectual disability, profound
Intellectual disability, severe
Intellectual disability, short stature, facial anomalies, and joint dislocations
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Intellectual disability-hypotonic facies syndrome, X-linked
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability/Autism spectrum disorder
Intellectual disability/Dysmorphic/Dysplasia
Intellectual disability/Inborn errors of metabolism
Intellectual disability/Myopathy/Muscular dystrophy
Intellectual disability/developmental delay
Intellectual disability/developmental delay & nystagmus
Intellectual disability/developmental delay & speech delay/disorder
Intellectual disability/developmental delay and epilepsy
Intellectual disability/developmental delay epilepsy and movement disorder
Intellectual disability/developmental delay epilepsy and speech/language disorder
Intellectual disability/developmental delay epilepsy speech/language disorder and movement disorder
Intellectual disability/developmental delay speech/language disorder and movement disorder
Intellectual disability/developmental delay with behavioral problems & facial dysmorphism
Intellectual disability/global developmental delay hypotonia autistic traits movement disorder and facial dysmorphism
Intellectual disability/global developmental delay hypotonia movement disorder and facial dysmorphism
Intellectual disabilty seizures and dysmorphic features
Intellectual performance impairment
Intellectual/developmental disability with behavioural abnormalities and mild facial dysmorphism
Interferonopathy type 1
Intermediate maple syrup urine disease type 2
Interstitial lung and liver disease
Interstitial lung and liver disease with postnatal growth failure and anemia
Interstitial lung disease
Interstitial lung disease childhood
Interstitial lung disease diffuse acute onset
Interstitial lung disease due to ABCA3 deficiency
Interstitial lung disease growth delay hypotonia brain calcifications & liver dysfunction
Interstitial lung disease nephrotic syndrome and epidermolysis bullosa
Interstitial pneumonia idiopathic
Interstitial pneumonitis
Intervertebral disc disease
Intestinal atresia
Intestinal hypomagnesemia 1
Intestinal obstruction
Intestinal pseudo obstruction
Intestinal varicosis
Intra mitochondrial methylation deficiency
Intra uterine growth restriction
Intracerebral haemorrhage
Intracerebral haemorrhage & leukoencephalopathy
Intracerebral haemorrhage foetal
Intracerebral haemorrhage foetal with cataract
Intracerebral haemorrhage late onset
Intracranial aneurysm
Intracranial aneurysm familial
Intracranial aneurysm increased risk
Intracranial aneurysm/subarachnoid haemorrhage
Intracranial aneurysms
Intracranial calcification
Intracranial germ cell tumour increased risk
Intracranial thrombosis and haemorrhage and purpura fulminans
Intracranial vertebral basilar artery dissection susceptibility to
Intractable diarrhoea of infancy
Intractable epilepsy
Intractable epilepsy and developmental delay
Intractable epilepsy and intellectual disability
Intractable epilepsy and neurodevelopmental regression
Intractable epilepsy childhood onset
Intractable epilepsy involuntary movements microcephaly and development and growth retardation
Intractable epilepsy neocortical
Intractable epilepsy suggestive of Lennox gastaut syndrome cognitive decline
Intractable neonatal seizures
Intractable seizures
Intraductal papillary mucinous neoplasm
Intrahepatic cholestasis
Intrahepatic cholestasis Greenland type
Intrahepatic cholestasis benign recurrent
Intrahepatic cholestasis benign recurrent 2
Intrahepatic cholestasis familial benign
Intrahepatic cholestasis familial benign 2
Intrahepatic cholestasis familial benign/Cholestasis non fibrosing
Intrahepatic cholestasis familial progressive
Intrahepatic cholestasis familial progressive 2
Intrahepatic cholestasis familial progressive 2 with atopic dermatitis
Intrahepatic cholestasis familial progressive 3
Intrahepatic cholestasis neonatal
Intrahepatic cholestasis neonatal with multiple ovarian antral follicles
Intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis of pregnancy association
Intrahepatic cholestasis progressive familial
Intrahepatic stones
Intranuclear rod myopathy
Intraocular pressure
Intraocular pressure lower and glaucoma protection against
Intrauterine HIV 1 infection increased risk
Intrauterine fetal death
Intrauterine growth restriction short stature & early onset diabetes
Intrauterine growth retardation dysmorphic features & insulin resistance
Intrauterine growth retardation meconium ileus neonatal respiratory distress generalized neonatal hypotonia hip dislocation and fewer pairs of ribs
Intrauterine growth retardation neonatal cholestasis and developmental delay
Intrauterine growth retardation neonatal respiratory distress microcephaly cryptorchidism neonatal hypoglycaemia chronic metabolic acidosis and lactic acidosis
Intrauterine stroke & anterior segment dysgenesis
Intrinsic factor deficiency
Invasive aspergillosis susceptibility
Invasive meningococcal disease
Iodide organification defect
Iodide transport defect
Iodotyrosine deiodination defect
Iodotyrosyl coupling defect
Irido-corneo-trabecular dysgenesis
Iridogoniodysgenesis syndrome
Iris anomaly
Iris coloboma
Iris hypoplasia
Iron accumulation in brain
Iron deficiency anaemia
Iron deficiency anaemia susceptibility
Iron overload
Iron overload disease ferroportin associated
Iron overload severe in HFE haemochromatosis
Iron refractory iron deficiency anaemia (IRIDA)
Iron status and erythrocyte volume
Iron sulphur cluster deficiency
Iron-refractory iron deficiency anemia
Irritable bowel syndrome
Irritable bowel syndrome increased risk
Irritable bowel syndrome susceptibility
Ischaemic cardiomyopathy infarct size
Ischaemic heart disease increased risk
Ischaemic heart disease lower risk
Ischaemic stroke
Ischaemic stroke increased risk
Ischaemic stroke protection against
Ischaemic stroke with migraine
Ischemic cerebrovascular events
Ischemic stroke
Ischemic stroke protection against
Ischiospinal dysostosis
Islet cell adenomatosis
Isobutyryl CoA dehydrogenase deficiency
Isolated 17,20-lyase deficiency
Isolated Complex I deficiency
Isolated GnRH Deficiency
Isolated anhidrosis with normal sweat glands
Isolated anophthalmia-microphthalmia syndrome
Isolated aortic dilation without osteoarthritis
Isolated central hypothyroidism
Isolated cleft palate
Isolated congenital asplenia
Isolated distal myopathy of upper limbs
Isolated eyelid closure myotonia
Isolated fingernail dysplasia autosomal recessive
Isolated focal cortical dysplasia type II
Isolated focal non-epidermolytic palmoplantar keratoderma
Isolated growth hormone deficiency
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency, type 4
Isolated growth hormone deficiency, type 5
Isolated hyperCKaemia
Isolated hyperchlorhidrosis
Isolated hypoglossal nerve palsy
Isolated hypomyelination
Isolated lutropin deficiency
Isolated macular dystrophy
Isolated microphthalmia 3
Isolated microphthalmia 5
Isolated microphthalmia 6
Isolated microphthalmia 7
Isolated microphthalmia 8
Isolated mineralocorticoid deficiency
Isolated nail dysplasia
Isolated neonatal sclerosing cholangitis
Isolated question mark ears
Isolated sulfite oxidase deficiency
Isovaleric acidaemia
Isovaleryl-CoA dehydrogenase deficiency
Ivemark syndrome
J wave syndrome with sudden cardiac death
JK null variant
JMH blood group variation
JMP syndrome
JT interval
Jackson Weiss syndrome
Jackson-Weiss syndrome
Jal+ antigen
Jalili syndrome
Jalili syndrome with muscular overgrowth
Jaundice
Jervell and Lange Nielsen syndrome
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 2
Jeune asphyxiating thoracic dystrophy
Jeune like syndrome
Jeune syndrome
Jeune thoracic dystrophy
Johanson Blizzard syndrome
Johanson-Blizzard syndrome
Joint contracture limited upward gaze & Legg Calve Perthes disease
Joint hypermobility syndrome with myopathy
Joint laxity
Joubert like syndrome
Joubert syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 14
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 23
Joubert syndrome 27
Joubert syndrome 3
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 35
Joubert syndrome 38
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome Senior Loken type
Joubert syndrome and related disorders
Joubert syndrome modifier of
Joubert syndrome with agenesis of corpus callosum
Joubert syndrome with cleft palate and hepatopathy
Joubert syndrome with nephropathy
Joubert syndrome with retinal dystrophy
Joubert syndrome/Nephronophthisis with end stage renal disease and microcephaly
Joubert syndrome/Orofaciodigital syndrome
Jr(a ) blood group variant
Juberg Marsidi Brooks syndrome
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile absence epilepsy
Juvenile absence epilepsy/Childhood absence epilepsy
Juvenile amyotrophic lateral sclerosis
Juvenile arthritis
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis autoimmune oligo/polyarticular
Juvenile idiopathic arthritis systemic
Juvenile idiopathic arthritis with combined JP HHT syndrome
Juvenile idiopathic arthritis with renal disease
Juvenile myelomonocytic leukemia
Juvenile myoclonic and generalized epilepsy
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy with febrile seizures
Juvenile myoclonic epilepsy with photoparoxysmal response and febrile seizures
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Juvenile nephropathic cystinosis
Juvenile onset Parkinson disease 19A
Juvenile onset psychosis
Juvenile open angle glaucoma
Juvenile polyposis and hereditary haemorrhagic telangiectasia
Juvenile polyposis coli
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile primary lateral sclerosis
Juvenile retinoschisis
Juvenile vitelliform macular dystrophy
K(null) phenotype
KAT6A syndrome
KBG syndrome
KCNQ2-Related Disorders
KCNT2-related condition
KINSSHIP SYNDROME
Kabuki like syndrome
Kabuki syndrome
Kabuki syndrome 1
Kabuki syndrome 2
Kabuki syndrome atypical
Kabuki syndrome with non immune foetal hydrops/ascites
Kahrizi syndrome
Kallikrein deficiency
Kallmann / CHARGE syndrome
Kallmann syndrome
Kallmann syndrome reversible
Kallmann syndrome with cleft lip
Kallmann syndrome with deafness
Kallmann syndrome without deafness
Kaposi sarcoma
Karak syndrome
Kartagener syndrome
Karyomegalic interstitial nephritis
Kashin Beck disease
Kaufman oculocerebrofacial syndrome
Kawasaki disease
Kawasaki disease in males
Kaya-Barakat-Masson syndrome
Kearns Sayre syndrome
Kell blood group variation
Keloid formation
Keloids
Kennedy disease
Kennedy pathway disorder neurodegenerative autosomal recessive
Kenny Caffey syndrome
Keppen Lubinsky syndrome
Keppen-Lubinsky syndrome
Keratitis fugax hereditaria
Keratitis ichthyosis deafness syndrome
Keratitis ichthyosis deafness syndrome modifier of
Keratoacanthoma
Keratoconus
Keratoconus & Fuchs endothelial corneal dystrophy
Keratoconus 1
Keratoconus familial
Keratocystic odontogenic tumours
Keratoderma & woolly hair
Keratoderma Ichthyosis Deafness syndrome
Keratoderma deafness mucocutaneous syndrome
Keratoderma diffuse palmoplantar
Keratoderma epidermolytic palmoplantar
Keratoderma epidermolytic palmoplantar with tontubular keratin
Keratoderma focal palmoplantar
Keratoderma hypotrichosis leukonychia syndrome
Keratoderma non epidermolytic palmoplantar
Keratoderma palmoplantar
Keratoderma palmoplantar & thrombocytopaenia
Keratoderma palmoplantar Bothnia Type
Keratoderma palmoplantar diffuse nonepidermolytic
Keratoderma palmoplantar punctate
Keratoderma palmoplantar punctate Buschke Fischer Brauer type
Keratoendotheliitis fugax hereditaria
Keratosis follicularis
Keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans, X-linked
Keratosis pilaris
Keratosis pilaris atrophicans
Kernicterus acute
Ketoacidosis ketogenic stress related
Khan-Khan-Katsanis syndrome
Kidd blood group variant
Kidney and urinary tract abnormalities (CAKUT)
Kidney disease
Kidney disease tubulo interstitial & glomerulocystic
Kidney function
Kidney malformation polycystic Kidney disease
Kidney renal cell carcinoma
Kidney renal clear cell carcinoma
Kidney renal papillary cell carcinoma
Kidney stone disease
Kidney stones
Kindler syndrome
Kleefstra like syndrome
Kleefstra syndrome
Kleefstra syndrome 1
Kleefstra syndrome 2
Kleine Levin syndrome
Klippel Feil & Treacher Collins syndrome
Klippel Feil syndrome
Klippel Trenaunay Weber syndrome
Klippel Trenaunay syndrome
Klippel-Feil syndrome 2, autosomal recessive
Klippel-Trénaunay syndrome
Klüver Bucy syndrome
Kniest dysplasia
Knobloch syndrome
Knops blood group variation
Knuckle pads hyperkeratosis and deafness
Knuckle pads leukonychia sensorineural deafness
Knuckle pads, deafness AND leukonychia syndrome
Kohlschutter-Tonz syndrome-like
Kohlschütter Tönz syndrome
Koolen-de Vries syndrome
Kosaki overgrowth syndrome
Kostmann disease
Kostmann syndrome
Krabbe disease
Krabbe disease late onset
Krabbe disease, atypical, due to saposin A deficiency
Kufor Rakeb syndrome
Kufor-Rakeb syndrome
Kufs disease
Kufs disease type B
Kugelberg-Welander disease
Kynurenic acid levels in cerebrospinal fluid
Kyphomelic dysplasia
Kyphoscoliosis
L 2 Hydroxyglutaric aciduria
L ferritin deficiency
L-2-hydroxyglutaric aciduria
L1 syndrome
LAMA2-related muscular dystrophy
LAMB2-related infantile-onset nephrotic syndrome
LCAT deficiency
LDL cholesterol levels
LEOPARD syndrome
LEOPARD syndrome 1
LEOPARD syndrome 2
LIG4 syndrome
LIPE-related familial partial lipodystrophy
LOX related lethal phenotype
LPAC syndrome with dilation of the bile ducts and gallstones
LRBA deficiency
LUO-SCHOCH-YAMAMOTO SYNDROME
Labyrinthine aplasia microtia & microdontia
Lacrimo auriculo dento digital syndrome
Lactase deficiency congenital
Lactate dehydrogenase deficiency
Lactate levels
Lactic acidaemia & mitochondrial disorder
Lactic acidemia neonatal
Lactic acidosis
Lactic acidosis & hyperpyruvataemia
Lactic acidosis and dilated cardiomyopathy
Lactic acidosis epilepsy and developmental delay
Lactic acidosis failure to thrive and pulmonary hypertension
Lactic acidosis fatal early onset
Lactic acidosis fatal neonatal
Lactic acidosis microcephaly seizures & developmental delay
Lactic acidosis myopathy hearing loss renal failure & dysautonomia
Lactic acidosis with mitochondrial DNA depletion
Lactic aciduria due to D-lactic acid
Lady Windermere syndrome
Lafora body disease early onset
Lafora disease
Laing distal myopathy
Lamb Shaffer syndrome
Lamb-Shaffer syndrome
Lambert Eaton myasthenic syndrome
Lamellar cataract with lens subluxation
Lamellar ichthyosis
Lamellar ichthyosis with hyperlinearity of palms & soles
Laminin alpha 2 chain deficiency partial
Laminopathy
Laminopathy related disoriders
Laminopathy without neurological onset
Lan( ) blood group variant
Lan(w) blood group variant
Landau Kleffner syndrome
Landau-Kleffner syndrome
Langer mesomelic dysplasia
Langer mesomelic dysplasia syndrome
Langerhans cell histiocytosis
Language and cognitive impairement
Language delay
Language delay and autism spectrum disorder
Language disorder hearing loss gastro oesphageal reflux disease failure to thrive and short stature
Language impairment
Lanosterol synthase deficiency
Large artery stroke increased risk
Large head dysmorphism bilateral cataract elastic skin
Laron dwarfism
Laron syndrome with elevated serum GH-binding protein
Laron syndrome with undetectable serum GH-binding protein
Laron-type isolated somatotropin defect
Larsen like syndrome
Larsen like syndrome B3GAT3 type
Larsen syndrome
Larsen syndrome autosomal dominant
Larsen syndrome autosomal recessive
Larsen-like syndrome, B3GAT3 type
Laryngeal cancer
Laryngeal cancer smoking related increased risk
Laryngo onycho cutaneous syndrome
Late foetal loss
Late onset alzheimer's disease
Late onset ataxia pyramidal disturbances and mild parkinsonism
Late onset limb girdle muscular dystrophy
Late onset lipodystrophy
Late-onset retinal degeneration
Later onset of Alzheimer disease
Laterality defect
Lathosterolosis
Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type III
Laurence moon biedl syndrome
Lazy leukocyte syndrome
Leaky T low B+ NK+ SCID with nodular regenerative hyperplasia
Leanness, inherited
Learning disability Speech delay Sickle cell anemia trait with thrombocytopenia
Learning disability with progressive ataxia spasticity and dystonia
Leber congenital amaurosis
Leber congenital amaurosis / retinal dystrophy
Leber congenital amaurosis 1
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 19
Leber congenital amaurosis 2
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis IV
Leber congenital amaurosis and skeletal ciliopathy mild
Leber congenital amaurosis with early-onset deafness
Leber congenital amaurosis with hearing loss
Leber congenital amaurosis with macular pseudocoloboma
Leber congenital amaurosis/chorioretinal dysplasia
Leber congenital amaurosis/cone rod dystrophy
Leber congenital amaurosis/retinitis pigmentosa
Leber hereditary optic neuropathy, autosomal recessive
Leber optic atrophy
Leber optic atrophy and dystonia
Leber optic neuropathy like optic neuropathy
Leber plus disease
Lecithin:cholesterol acyltransferase deficiency
Left opercular polymicrogyria
Left right axis malformation
Left right laterality defect
Left right laterality defect susceptibility to
Left sided congenital heart disease
Left ventricular aneurysm and trabeculation
Left ventricular cardiomegaly cerebral edema & nephrosis with multiple cortical ventricular and subdural hemorrhages
Left ventricular dilatation
Left ventricular dysfunction
Left ventricular hypertrophy
Left ventricular hypertrophy risk
Left ventricular hypertrophy sensory peripheral neuropathy astigmatism amblyopia ptosis & exercise intolerance
Left ventricular mass
Left ventricular non compaction
Left ventricular non compaction hypotonia & infantile death
Left ventricular non compaction in Kawasaki disease
Left ventricular non compaction modifier of
Left ventricular noncompaction
Left ventricular noncompaction 1
Left ventricular noncompaction 10
Left ventricular noncompaction 4
Left ventricular noncompaction 5
Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction with CHD
Left ventricular noncompaction with arrhythmias
Left ventricular obstruction
Left ventricular obstruction & Neurodevelopmental disorder
Left ventricular obstruction with Shone complex
Left ventricular obstruction with Shone complex and neurodevelopmental disorder
Left ventricular obstruction with extra cardiac anomalies
Left ventricular obstruction with extracardiac anomalies
Left ventricular obstruction with extracardiac anomalies & Neurodevelopmental disorder
Left ventricular outflow tract obstruction
Left ventricular outflow tract obstructions
Legg Calve Perthes disease
Legg Calve Perthes like disease
Legionnaires disease
Legius syndrome
Leigh disease
Leigh disease with pyruvate and alpha ketoglutarate dehydrogenase deficiencies
Leigh like disease
Leigh like syndrome developmental delay encephalopathy sensorineural hearing loss with sepsis like features
Leigh syndrome
Leigh syndrome & developmental delay
Leigh syndrome French Canadian type
Leigh syndrome and combined OXPHOS deficiency
Leigh syndrome and combined respiratory chain deficiency
Leigh syndrome and complex I deficiency
Leigh syndrome atypical
Leigh syndrome autosomal recessive
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome with nephropathy and COQ10 deficiency
Leigh syndrome/Mitochondrial Complex I deficiency
Leiomyomatosis
Leiomyomatosis and renal cell cancer
Leiomyomatosis renal cell cancer and male infertility
Lennox Gastaut syndrome
Lennox Gastaut syndrome & intellectual disability
Lenox Gastaut syndrome
Lens luxation and striae
Lentigines & cafe au lait macules
Lentigines & dyschromatosis
Lentigines multiple
Lentiginosis autosomal dominant
Lenz Majewski syndrome
Lenz-Majewski hyperostosis syndrome
Leprechaunism
Leprechaunism syndrome
Leprosy
Leprosy increased risk
Leprosy protection against
Leprosy susceptibility
Leprosy susceptibility to
Leptin deficiency
Leptin dysfunction
Leptin receptor deficiency
Leri Weill dyschondrosteosis
Leri-Weill dyschondrosteosis
Lesch Nyhan syndrome
Lesch-Nyhan syndrome
Lesch-nyhan syndrome, neurologic variant
Lessel-Kreienkamp syndrome
Lethal arthrogryposis with anterior horn cell disease
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal congenital contracture syndrome
Lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome 1/lethal arthrogryposis with anterior horn cell disease
Lethal congenital contracture syndrome 11
Lethal congenital contracture syndrome 2
Lethal congenital contracture syndrome 3
Lethal congenital contracture syndrome 6
Lethal congenital contracture syndrome 7
Lethal congenital contracture syndrome 7 & arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 8
Lethal congenital glycogen storage disease of heart
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Lethal multiple pterygium syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome, Boissel type
Leucine-induced hypoglycemia
Leucoencephalopathy progressive cavitating
Leucoencephalopathy severe
Leukaemia
Leukaemia acute lymphoblastic
Leukaemia acute myeloid
Leukaemia juvenile myelomonocytic
Leukaemia paediatric
Leukaemia risk
Leukaemia/lymphoma
Leukemia, Philadelphia chromosome-positive, resistant to imatinib
Leukemia, acute lymphoblastic, susceptibility to, 3
Leukemia, acute myeloid, susceptibility to
Leukemia, acute, X-linked
Leukemoid reaction
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency 1
Leukocyte adhesion deficiency 2
Leukocyte adhesion deficiency 3
Leukocyte adhesion deficiency type II
Leukodystrophy
Leukodystrophy POLR3 related
Leukodystrophy X linked
Leukodystrophy and acquired microcephaly with or without dystonia;
Leukodystrophy cerebellar atrophy cognitive decline psychiatric symptoms & tremors
Leukodystrophy developmental delay feeding problems and recurrent vomiting
Leukodystrophy fatal infantile
Leukodystrophy hypomyelinating
Leukodystrophy hypomyelinating with or without olgiodontia and/or hypogonadotropic hypogonadism
Leukodystrophy infantile onset
Leukodystrophy subclinical
Leukodystrophy type 7
Leukodystrophy with acute psychomotor regression
Leukodystrophy with acute psychomotor regression and feeding difficulties
Leukodystrophy with myoclonus and dystonia
Leukodystrophy with oligodontia
Leukodystrophy with spastic paraparesis & dystonia
Leukodystrophy, hypomyelinating, 14
Leukodystrophy, hypomyelinating, 15
Leukodystrophy, hypomyelinating, 16
Leukodystrophy, hypomyelinating, 17
Leukodystrophy, hypomyelinating, 18
Leukodystrophy, hypomyelinating, 20
Leukodystrophy, hypomyelinating, 21
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Leukoencephalopathia demyelinating peripheral neuropathy and dural ectasia
Leukoencephalopathy
Leukoencephalopathy & growth retardation
Leukoencephalopathy and ovarian failure in females
Leukoencephalopathy and severe epilepsy
Leukoencephalopathy basal ganglia calcification & action tremor
Leukoencephalopathy brain & spinal cord lactate elevation asymptomatic
Leukoencephalopathy brain & spine involvement lactate elevation
Leukoencephalopathy cataracts and renal cysts
Leukoencephalopathy cavitating
Leukoencephalopathy hypomyelination
Leukoencephalopathy infantile
Leukoencephalopathy intellectual disability spastic quadriplegia epilepsy microcephaly short stature & cerebral atrophy
Leukoencephalopathy late onset
Leukoencephalopathy lethal infantile
Leukoencephalopathy paediatric onset with absence of microglia
Leukoencephalopathy progressive multifocal
Leukoencephalopathy reversible with accumulation of α ketoglutarate
Leukoencephalopathy tigroid like
Leukoencephalopathy vascular
Leukoencephalopathy with ataxia
Leukoencephalopathy with axonal spheroids & pigmented glia
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with brainstem & spinal cord involvement
Leukoencephalopathy with cysts & hyperglycinaemia
Leukoencephalopathy with early death
Leukoencephalopathy with gait abnormality
Leukoencephalopathy with microcephaly
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy with multi systemic involvement
Leukoencephalopathy with multiple mitochondrial dysfunction syndrome
Leukoencephalopathy with muscle symptons brain small vessel disease and infantile encephalopathy
Leukoencephalopathy with temporal lobe cysts and hearing loss
Leukoencephalopathy with thalamic involvement
Leukoencephalopathy with thalamus & brainstem involvement
Leukoencephalopathy with thalamus & brainstem involvement & high lactate
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy with vanishing white matter and hyperinsulinaemic hypoglycaemia
Leukoencephalopathy with white matter oedema
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Leukoencephalopathy, progressive, with ovarian failure
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukonychia
Leukonychia & koilonychia
Leukonychia totalis
Leukopaenia
Leukopaenia thiopurine induced susceptibility to
Levy-Hollister syndrome
Lewis antigen absence
Lewy body dementia
Lewy body dementia with parkinsonism
Lewy body dementia/Alzheimer disease
Lewy body disorder
Leydig cell adenoma, somatic, with male-limited precocious puberty
Leydig cell agenesis
Leydig cell hypoplasia
Leydig cell hypoplasia & male pseudohermaphroditism
Leydig cell hypoplasia II
Leydig cell hypoplasia type I
Leydig cell hypoplasia, type II
Leydig cell tumour of the testis
Leydig hypoplasia, type I
Lhermitte Duclos disease
Lhermitte-Duclos disease
Li Fraumeni like syndrome
Li Fraumeni syndrome
Li Fraumeni syndrome / Li Fraumeni syndrome like
Li Fraumeni syndrome increased risk
Li Fraumeni syndrome with gastric cancer
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 2
Li-Fraumeni-like syndrome
Li-Ghorbani-Weisz-Hubshman syndrome
Liberfarb syndrome
Lichtenstein Knorr syndrome
Lichtenstein-Knorr syndrome
Liddle syndrome
Liddle syndrome 1
Liddle syndrome 3
Light complexion
Ligneous conjunctivitis
Limb & face contractures hypotonia & developmental delay
Limb body wall complex / amniotic band sequence
Limb craniofacial & heart defects
Limb dystonia
Limb girdle congenital myasthenic syndrome
Limb girdle congenital myasthenic syndrome salbutamol responsive
Limb girdle congenital myasthenic syndrome with tubular aggregates
Limb girdle muscle weakness
Limb girdle muscle weakness ophthalmoplegia ptosis hyperCKaemia
Limb girdle myasthenia
Limb malformation
Limb mammary syndrome
LinE 1 retrotransposition
Linear porokeratosis
Linear sebaceous nevus sequence
Linear skin defects with multiple congenital anomalies 1
Linkeropathy syndrome with eye anomalies
Lip and oral cavity carcinoma
Lipid levels in hyperlipidaemia
Lipid metabolism
Lipid proteinosis
Lipid storage myopathy
Lipodystrophy
Lipodystrophy acro osteolysis and severely reduced vision
Lipodystrophy and insulin resistance
Lipodystrophy and/or insulin resistance
Lipodystrophy congenital and fatty liver disease
Lipodystrophy congenital generalized
Lipodystrophy familial partial 2
Lipodystrophy familial partial 3
Lipodystrophy familial partial 4
Lipodystrophy generalized
Lipodystrophy generalized and atypical progeroid syndrome
Lipodystrophy mandibular dysplasia and dilated cardiomyopathy
Lipodystrophy partial
Lipodystrophy partial acquired susceptibility to
Lipodystrophy partial type 3
Lipodystrophy with recurrent acute myoglobinuria
Lipoic acid synthetase deficiency
Lipoid proteinosis
Lipomatosis and vasculitis
Lipoprotein glomerulopathy
Lipoprotein levels
Lipoprotein lipase deficiency
Lipoprotein lipase deficiency partial
Lipoyl transferase 1 deficiency
Lipoyltransferase 1 deficiency
Lissencephaly
Lissencephaly / temporal lobe epilepsy
Lissencephaly 10
Lissencephaly 3
Lissencephaly 6 with microcephaly
Lissencephaly 8
Lissencephaly 9 with complex brainstem malformation
Lissencephaly X linked with abnormal genitalia
Lissencephaly agenesis of the corpus callosum & ventriculomegaly
Lissencephaly developmental delay & infantile spasms
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly isolated
Lissencephaly posterior predominant
Lissencephaly syndrome X linked
Lissencephaly thin
Lissencephaly type 1 due to doublecortin gene mutation
Lissencephaly type II
Lissencephaly with Hirschsprung disease
Lissencephaly with basal ganglia calcification
Lissencephaly with cerebellar hypoplasia
Livedo reticularis stroke and polyarteritis nodosa
Livedo reticularis with stroke or polyarteritis nodosa
Liver cancer
Liver cirrhosis
Liver colon cancer syndrome
Liver disease
Liver disease hypotonia and growth retardation
Liver disease susceptibility to
Liver failure
Liver failure infant onset
Liver failure syndrome 1 infantile
Liver failure syndrome 2 infantile
Liver failure transient infantile
Liver glycogenosis
Liver glycogenosis X linked type 1
Liver glycogenosis X linked type 2
Liver hepatocellular carcinoma
Liver injury drug induced
Liver transplant reduced risk of acute rejection
Lobar holoprosencephaly
Loeys Dietz aortic aneurysm syndrome
Loeys Dietz syndrome
Loeys Dietz syndrome type 3
Loeys Dietz syndrome type 4
Loeys Dietz syndrome type 5
Loeys Dietz syndrome type I
Loeys Dietz syndrome type II
Loeys Dietz syndrome with pneumothorax spontaneous
Loeys-Dietz syndrome
Loeys-Dietz syndrome 1
Loeys-Dietz syndrome 2
Loeys-Dietz syndrome 4
Loeys-Dietz syndrome 6
Lone atrial fibrillation
Long QT interval drug induced
Long QT non syndromic
Long QT syndrome
Long QT syndrome & atrial fibrillation
Long QT syndrome & catecholaminergic polymorphic ventricular tachycardia
Long QT syndrome & hypertrophic cardiomyopathy
Long QT syndrome 1
Long QT syndrome 1/2, digenic
Long QT syndrome 10
Long QT syndrome 14
Long QT syndrome 15
Long QT syndrome 16
Long QT syndrome 2
Long QT syndrome 3
Long QT syndrome 3 & dilated cardiomyopathy
Long QT syndrome 3/6, digenic
Long QT syndrome 9
Long QT syndrome and generalized epilepsy
Long QT syndrome and ventricular arrhythmia
Long QT syndrome drug associated
Long QT syndrome drug induced
Long QT syndrome drug induced increased risk
Long QT syndrome epilepsy & sudden death
Long QT syndrome latent
Long QT syndrome malignant perinatal variant
Long QT syndrome modifier of
Long QT syndrome with hypertrophic cardiomyopathy
Long QT syndrome, bradycardia-induced
Long chain 3 hydroxyacyl CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long qt syndrome 8
Longevity
Loose anagen hair syndrome
Lopes-Maciel-Rodan syndrome
Lordosis Periventricular leukomalacia Spasticity normal CK diplegia calf muscle hypertrophy
Loss of enzyme activity
Loss of function
Loss of nuclear localisation
Loss of pain perception
Loss of phosphorylation
Loss of receptor function
Loss of skills/regression movement abnormality and sensorineural hearing loss
Loss of synaptic phospholipid signalling
Low HDL cholesterol
Low LDL cholesterol
Low LDL cholesterol and reduced cholesterol absorption
Low alkaline phosphatase
Low bone density
Low bone mineral density
Low dietary cholesterol absorption
Low molecular weight proteinuria
Low muscle mass hypotonia growth retardation arthrogryposis & bifid uvula
Low phospholipase A2 activity
Low phospholipid associated cholelithiasis
Low phospholipid associated cholelithiasis and intrahepatic cholestasis of pregnancy
Low renin hypertension
Low serum adiponectin level
Low serum alkaline phosphatase
Low serum leptin levels
Low white blood cells
Lowe oculocerebrorenal syndrome
Lowe syndrome
Lowe syndrome/Dent disease 2
Lower HDL cholesterol level
Lower HNMT level
Lower ability to activate NF KB
Lower activity
Lower arachidonic & linoleic acid metabolism
Lower arachidonic acid metabolism
Lower blood pressure
Lower blood pressure in males
Lower enzyme activity
Lower femoral neck bone mineral density
Lower femoral neck bone mineral density in women association
Lower levels of phospholipid transfer protein and HDL cholesterol
Lower limb muscle weakness
Lower motor neuron disease
Lower motor neuron disease childhood onset
Lower motor neuron disease with respiratory failure
Lower motor neuron syndrome with late-adult onset
Lower non HDL cholesterol levels
Lower plasma LDL and HDL levels
Lower plasma TFPI
Lower plasma apo B concentration
Lower plasma eotaxin levels
Lower plasma triglyceride level
Lower platelet binding capacity
Lower sST2 levels
Lower serum insulin level
Lower total TC concentrations
Lower total cholesterol
Lower total cholesterol levels and myocardial infarction reduced risk
Lower urinary tract obstruction
Lower urinary tract obstruction, congenital
Lower waist to hip ratio
Lower white blood cell count
Lower whole body bone mineral density
Lu null phenotype
Lujan Fryns syndrome
Lujan syndrome
Lumbar disc degeneration
Lumbar disc degeneration susceptibility to
Lumbar disc disease
Lumbar spine bone mineral content
Lung adenocarcinoma
Lung adenocarcinoma decreased risk
Lung cancer
Lung cancer and COPD decreased risk
Lung cancer decreased risk
Lung cancer increased risk
Lung cancer increased risk and worse prognosis
Lung cancer increased risk in females non smokers and non drinkers
Lung cancer lower risk
Lung cancer primary with multiple cancers
Lung cancer reduced risk in Mexican Americans
Lung cancer risk
Lung cancer smoking induced
Lung cancer survival
Lung cancer susceptibility
Lung cancer susceptibility to
Lung carcinoma
Lung damage, immunodeficiency and chromosome breakage syndrome
Lung disease
Lung disease diffuse
Lung disease interstitial
Lung disease modifier association with SFTPC mutation
Lung disease modifier of
Lung disease protection against
Lung function in smokers
Lung hypoplasia polycystic kidneys and hypertrophy of the heart
Lung squamous cancer
Lupus paediatric onset
Luscan-Lumish syndrome
Luteinizing hormone resistance
Luteinizing hormone resistance, female
Luteinizing hormone variant
Lymph vessel dysplasia
Lymphadenopathy & Hodgkin lymphoma
Lymphangioleiomyomatosis
Lymphangioma gastro oesphageal reflux disease inguinal hernia and coractation of aorta
Lymphatic anomaly
Lymphatic dysplasia
Lymphatic dysplasia with non immune hydrops fetalis
Lymphatic malformation
Lymphatic malformation 10
Lymphatic malformation 11
Lymphatic malformation 3
Lymphatic malformation 6
Lymphatic malformation 7
Lymphatic related hydrops fetalis autosomal dominant
Lympho histiocytic syndrome
Lymphoblastic leukemia, acute, with lymphomatous features
Lymphocytic interstitial pneumonia/follicular bronchiolitis
Lymphocytic leukaemia risk
Lymphoedema
Lymphoedema cholestasis syndrome
Lymphoedema distichiasis
Lymphoedema primary
Lymphoedema primary Milroy like
Lymphoedema primary with myelodysplasia
Lymphoma
Lymphoma B cell
Lymphoma increased risk
Lymphoma reduced risk
Lymphoproliferation immunodeficiency and inflammatory bowel disease
Lymphoproliferative disease fatal
Lymphoproliferative disorder
Lymphoproliferative syndrome
Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 2
Lymphoproliferative syndrome X linked
Lymphoproliferative syndrome X linked type 2
Lynch II syndrome
Lynch like syndrome
Lynch syndrome
Lynch syndrome 1
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
Lysosomal storage disease
M ficolin deficiency
MAGEL2 related disorder
MAPK nonresponsiveness
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
MASA syndrome
MASP2 deficiency
MASS syndrome
MCP 1 levels
MDA5 related type I interferonopathy
MED12-related intellectual disability syndrome
MED13L haploinsufficiency syndrome
MED13L related intellectual disability
MEF2C haploinsufficiency syndrome
MEGF8-related Carpenter syndrome
MEHMO syndrome
MEND syndrome
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
METHYLMALONIC ACIDURIA, mut(-) TYPE
METHYLMALONIC ACIDURIA, mut(0) TYPE
MGAT2-CDG
MHC class I deficiency
MHC class II deficiency
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
MIRAGE syndrome
ML / LEOPARD syndrome
MLASA syndrome
MMSDH deficiency
MNS antigen
MNS antigen absence
MODY1
MODY11
MODY2
MODY4
MODY5
MODY6
MODY7
MODY8
MODY9
MOGS-CDG
MPDU1-CDG
MPI-CDG
MPV17 related mitochondrial DNA maintenance defect
MTO1 deficiency
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
MUTYH associated polyposis
MUTYH-related attenuated familial adenomatous polyposis
MYD88 deficiency
MYH3-Related Disorders
MYH7-Related Disorders
MYH7-related skeletal myopathy
MYH9 associated elastin aggregation
MYH9 related disease
MYH9-related disorder
MYO7A-Related Disorders
Macro aspartate aminotransferase
Macroadenoma
Macrocephalus
Macrocephaly
Macrocephaly & developmental delay
Macrocephaly IUGR Facial dysmorphism Hypotonia Brain Malformation Congenital Heart Malformation Prematurity Elevated transaminases
Macrocephaly and hydrocephalus
Macrocephaly developmental delay short stature dysmorphic craniofacial features and heart disease
Macrocephaly epilepsy short stature and developmental delay
Macrocephaly extended subarachnoid spaces thin corpus callosum hypopigmented fundus
Macrocephaly gross motor delay speech delay intellectual disability congenital deformity of the rib cage
Macrocephaly hypoplastic maxilla & skeletal dysplasia
Macrocephaly hypotonia & learning disabilities
Macrocephaly intellectual disability and sleep apnea
Macrocephaly motor and speech delay intellectual disability learning disability periventricular leukomalacia epilepsy
Macrocephaly multiple epiphyseal dysplasia & facial features
Macrocephaly overgrowth & intellectual disability
Macrocephaly physical and cognitive delay hemimegalencephaly hypertonia seizures
Macrocephaly ventriculomegaly VATER association
Macrocephaly, dysmorphic facies, and psychomotor retardation
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
Macrocephaly-autism syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocytic anaemia with variable neutropaenia
Macrocytic dyserythropoietic anaemia
Macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia corticotropin independent
Macrophage activation syndrome/haemophagocytic lymphohistiocytosis
Macroscopic haematuria with microhaematuria
Macrostomia
Macrothrombocytopaenia
Macrothrombocytopaenia and bleeding tendency
Macrothrombocytopaenia congenital
Macrothrombocytopaenia developmental delay & facial features
Macrothrombocytopaenia with focal myelofibrosis
Macrothrombocytopaenia with leukocyte inclusions
Macrothrombocytopenia
Macrothrombocytopenia Beta tubulin 1 related
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macrothrombocytopenia, familial, Bernard-Soulier type
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macrozoospermia
Macular abnormalities
Macular and cone/cone rod dystrophy
Macular and cone/cone rod dystrophy autosomal recessive
Macular atrophy
Macular coloboma and cataract
Macular corneal dystrophy
Macular corneal dystrophy type 1
Macular corneal dystrophy type 2
Macular corneal dystrophy, type II
Macular degeneration
Macular degeneration age related
Macular degeneration age related in smokers
Macular degeneration age related increased risk
Macular degeneration age related protection against
Macular degeneration age related reduced risk
Macular degeneration age related susceptibility to
Macular degeneration early onset
Macular degeneration juvenile
Macular degeneration risk
Macular degeneration, age-related, 3
Macular degeneration, early-onset
Macular degenerative disorder
Macular dystrophy
Macular dystrophy concentric annular
Macular dystrophy early onset
Macular dystrophy nonsyndromic
Macular dystrophy occult
Macular dystrophy occult with bilateral chronic subfoveal serous retinal detachment
Macular dystrophy unspecified
Macular dystrophy vitelliform
Macular dystrophy with central cone involvement
Macular pseudocoloboma
Maculopathy
Maculopathy and cone dystrophy
Maculopathy atypical
Madelung deformity
Magnesium altered sensitivity to
Mainzer Saldino syndrome
Mainzer Saldino syndrome / Jeune syndrome
Mainzer Saldino syndrome / Sensenbrenner syndrome
Mainzer Saldino syndrome with primary ciliary dyskinesia
Mainzer Saldino syndrome/asphyxiating thoracic dystrophy
Mainzer Saldino syndrome/asphyxiating thoracic dystrophy/Joubert syndrome
Majeed syndrome
Major depression
Major depressive disorder
Major depressive disorder increased risk
Major depressive disorder reduced risk
Major depressive disorder reduced rsik
Major platelet functional defect
Mal de Meleda
Malan overgrowth syndrome
Malan syndrome
Malaria severe
Malaria susceptibility
Malaria, susceptibility to
Malattia leventinese
Male factor infertility
Male germ cell tumor, somatic
Male infertility
Male infertility due to meiotic arrest
Male infertility due to obstructive azoospermia
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with small headed sperm
Male infertility with teratozoospermia due to single gene mutation
Male precocious puberty
Male pseudohermaphroditism
Male/female infertility
Malformation of cortical development
Malformations of brain heart kidneys and genitourinary system with developmental delay/intellectual disability
Malformations of cortical development
Malformations of cortical development polymicrogyria & microcephaly
Malignant hyperthermia
Malignant hyperthermia & exertional rhabdomyolosis
Malignant hyperthermia equivocal with halotane
Malignant hyperthermia of anesthesia
Malignant hyperthermia susceptiblity
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant melanoma
Malignant melanoma of skin
Malignant mesothelioma
Malignant migrating focal seizures in infancy
Malignant migrating partial seizures in infancy
Malignant migrating partial seizures of infancy
Malignant neoplasm
Malignant neoplasm of body of uterus
Malignant pleural mesothelioma asbestos predisposition
Malignant tumor of esophagus
Malignant tumor of floor of mouth
Malignant tumor of prostate
Malignant tumor of testis
Malignant tumor of urinary bladder
Malocclusion class III
Malonic & methylmalonic aciduria combined
Malonyl CoA decarboxylase deficiency
Mandibular hypoplasia deafness and progeroid features
Mandibular hypoplasia deafness progeroid and lipodystrophy syndrome
Mandibular hypoplasia-deafness-progeroid syndrome
Mandibular pelvic patellar syndrome
Mandibular prognathia
Mandibular prognathism
Mandibuloacral dysplasia
Mandibuloacral dysplasia & progeria syndrome
Mandibuloacral dysplasia type A
Mandibuloacral dysplasia type B
Mandibuloacral dysplasia with lipodystrophy
Mandibuloacral dysplasia with reduced subcutaneous fat
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis
Mandibulofacial dysostosis type Guion Almeida
Mandibulofacial dysostosis with alopecia
Mandibulofacial dysostosis with microcephaly
Mandibulofacial dysostosis-microcephaly syndrome
Manganese deficiency glycosylation & mitochondrial disorder
Manitoba oculo tricho anal syndrome
Mannose binding protein deficiency association
Mannose-binding lectin deficiency
Mannosidosis alpha
Mannosidosis beta
Mannosidosis beta lysosomal
Mantle cell lymphoma
Maple syrup urine disease
Maple syrup urine disease 2
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Maple syrup urine disease, thiamine-responsive, type II
Marbach-Schaaf neurodevelopmental syndrome
Marden Walker syndrome
Marden-Walker syndrome
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Marfan like syndrome
Marfan syndrome
Marfan syndrome II
Marfan syndrome atypical
Marfan syndrome early onset
Marfan syndrome features
Marfan syndrome incomplete
Marfan syndrome mild with Williams Beuren syndrome
Marfan syndrome neonatal
Marfan syndrome with aortic dissection and regurgitation
Marfan syndrome with aortopathy
Marfan syndrome with intracranial hypertension
Marfan syndrome with thoracic aortic aneurysm and aortic regurgitation
Marfan syndrome, atypical
Marfan syndrome, mild variable
Marfan syndrome, severe classic
Marfan/Thoracic aortic aneurysms and dissections
Marfanoid habitus
Marfanoid habitus & intellectual disability
Marfanoid habitus and intellectual disability
Marie Unna hereditary hypotrichosis
Marinesco Sjögren syndrome
Marinesco-Sjögren syndrome
Marked Hypotonia
Marked hypotonia with waddling gait
Marshall / Stickler syndrome
Marshall syndrome
Marshall-Smith syndrome
Marshall/Stickler syndrome
Martinique crinkled retinal pigment epitheliopathy
Martsolf syndrome
Mast syndrome
Mastocytosis
Mastocytosis diffuse cutaneous
Mastocytosis predisposition
Mastocytosis with haematologic disorder
Matthew-Wood syndrome
Maturity onset diabetes mellitus in young
Maturity-onset diabetes of the young type 1
Maturity-onset diabetes of the young type 10
Maturity-onset diabetes of the young type 13
Maturity-onset diabetes of the young type 14
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young type 7
Maturity-onset diabetes of the young type 9
Mauriac syndrome
Maxillary lateral incisor agenesis
Maxillary retrognathism
Maximal oxygen consumption
May Hegglin anomaly
May Hegglin anomaly/Sebastian syndrome
Mayer Rokitansky Küster Hauser syndrome
Mayer Rokitansky Küster Hauser syndrome type 1
Mayer Rokitansky Küster Hauser syndrome type II
McArdle disease
McArdle disease modifier of
McArdle disease with progressive exercise intolerance
McCune Albright syndrome
McCune Albright syndrome/Polyostotic fibrous dysplasia
McCune-Albright syndrome
McKusick Kaufman syndrome
McKusick-Kaufman syndrome
McLeod neuroacanthocytosis syndrome
McLeod syndrome
Meacham syndrome
Mean cell haemoglobin
Mean cell haemoglobin concentration
Mean cell volume
Mean corpuscular hemoglobin
Mean corpuscular hemoglobin concentration
Mean corpuscular volume
Meckel Gruber like syndrome
Meckel Gruber syndrome
Meckel syndrome
Meckel syndrome / hydrolethalus
Meckel syndrome type 3
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel-Gruber syndrome
Meconium ileus
Meconium ileus lethal
Mediastinal neuroendocrine cancer
Mediterranean fever familial
Mediterranean fever familial with hyperimmunoglobulinaemia D syndrome
Mediterranean fever with Behçet disease
Medium and short chain 3 hydroxyacyl CoA dehydrogenase deficiency
Medium chain acyl CoA dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medullary cystic kidney disease 2
Medullary cystic kidney disease and focal segmental glomerulosclerosis
Medullary thyroid carcinoma
Medulloblastoma
Medulloblastoma desmoplastic/nodular
Medulloblastoma with cae au lait spots
Mega corpus callosum syndrome with cerebellar hypoplasia & cortical malformations
Mega corpus callosum syndrome with cortical malformations
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Megabladder congenital
Megacolon
Megaconial muscular dystrophy
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis, microcolon, hypoperistalsis syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Megalencephalic leukoencephalopathy
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with intellectual disability
Megalencephaly
Megalencephaly and macrosomia
Megalencephaly and polymicrogyria
Megalencephaly capillary malformation
Megalencephaly capillary malformation / megalencephaly polymicrogyria polydactyly hydrocephalus syndrome
Megalencephaly intellectual disability distinctive facies ventriculomegaly and polydactyly
Megalencephaly polymicrogyria & periventricular nodular heterotopia
Megalencephaly polymicrogyria epilepsy and hypoglycaemia
Megalencephaly polymicrogyria polydactyly hydrocephalus syndrome
Megalencephaly with growth hormone deficiency
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Megaloblastic anaemia
Megaloblastic anaemia & cerebral folate deficiency
Megaloblastic anaemia 1
Megaloblastic anaemia and/or pancytopaenia
Megaloblastic anaemia thiamine responsive
Megaloblastic anaemia thiamine responsive without diabetes
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Megalocornea
Megalocornea & lens related glaucoma
Megalocornea X linked
Meier Gorlin syndrome
Meier Gorlin syndrome & craniosynostosis
Meier-Gorlin syndrome
Meier-Gorlin syndrome 1
Meier-Gorlin syndrome 2
Meier-Gorlin syndrome 3
Meier-Gorlin syndrome 4
Meier-Gorlin syndrome 5
Meier-Gorlin syndrome 7
Meier-Gorlin syndrome 8
Meiotic arrest
Melanesian blond hair
Melanocortin 4 receptor variant
Melanoma
Melanoma / renal cell carcinoma predisposition to
Melanoma impaired survival
Melanoma increased risk
Melanoma predisposition to
Melanoma reduced risk
Melanoma, cutaneous malignant, susceptibility to, 1
Melanoma, cutaneous malignant, susceptibility to, 10
Melanoma, cutaneous malignant, susceptibility to, 2
Melanoma, cutaneous malignant, susceptibility to, 3
Melanoma, cutaneous malignant, susceptibility to, 8
Melanoma-pancreatic cancer syndrome
Melanoma/Pancreatic cancer
Melkersson Rosenthal syndrome
Melnick Needles syndrome
Melnick Needles syndrome epilepsy & heterotopia periventricular nodular
Melnick-Fraser syndrome
Melnick-Needles syndrome
Membranoproliferative glomerulonephritis
Membranoproliferative glomerulonephritis type I
Membranous nephropathy
Mendelian susceptibility to mycobacterial disease
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Meniere disease
Meniere's disease
Meniere's disease autosomal dominant
Meningioma
Meningitis recurrent lymphocytic
Meningococcal disease reduced risk
Meningococcal disease susceptibility
Meningomyelocele
Menke Hennekam syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
Menkes kinky-hair syndrome
Menkes syndrome
Menkes syndrome atypical
Menkes syndrome mild variant
Menkes syndrome with heart defects
Menorrhagia
Mental deterioration
Mental disorder
Mental illness
Mental illness severe
Mental retardation
Mental retardation & callosum abnormalities
Mental retardation & epilepsy
Mental retardation / autism
Mental retardation 24
Mental retardation Bain type
Mental retardation Rett like
Mental retardation Stocco dos Santos type
Mental retardation X linked
Mental retardation X linked 3
Mental retardation X linked Christianson type
Mental retardation X linked Claes Jensen type
Mental retardation X linked Turner type
Mental retardation X linked with overgrowth
Mental retardation and cerebellar hypoplasia
Mental retardation and distinctive facial features with cardiac defects
Mental retardation and distinctive facial features with or without cardiac defects
Mental retardation and epilepsy
Mental retardation and nystagmus
Mental retardation and progressive spasticity
Mental retardation and seizures
Mental retardation and short stature
Mental retardation and spastic paraplegia
Mental retardation autosomal dominant
Mental retardation autosomal dominant 13
Mental retardation autosomal dominant 21
Mental retardation autosomal dominant 41
Mental retardation autosomal dominant 6
Mental retardation autosomal dominant 7
Mental retardation autosomal dominant 8
Mental retardation autosomal dominant/Coffin Siris syndrome
Mental retardation autosomal recessive
Mental retardation deafness ankylosis & hypophosphatemia
Mental retardation dystonia and postnatal microcephaly
Mental retardation early onset & intractable seizures
Mental retardation hypotonic facies syndrome
Mental retardation microcephaly and pontocerebellar hypoplasia
Mental retardation non specific
Mental retardation non specific X linked
Mental retardation non syndromic
Mental retardation non syndromic autosomal recessive
Mental retardation nystagmus and microcephaly
Mental retardation pervasive developmental disorder and epilepsy
Mental retardation seizures & hypomagnesemia
Mental retardation syndrome X linked
Mental retardation syndromic
Mental retardation with behavioural anomalies
Mental retardation with epilepsy
Mental retardation without alpha thalassaemia
Meretoja syndrome
Merosin deficiency partial
Merosin deficient congenital muscular dystrophy
Mesangial proliferation
Mesangiocapillary glomerulonephritis
Mesial temporal lobe epilepsy
Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal sclerosis in SCN1A related epilepsy
Mesoaxial synostotic syndactyly Malik Percin type
Mesoaxial synostotic syndactyly with phalangeal reduction
Mesomelic dysplasia with foot malformation
Mesothelioma
Metabolic acidosis
Metabolic acidosis 3 methylglutaconic aciduria and hyperammonaemia
Metabolic acidosis regression in developmental milestone
Metabolic alkalosis
Metabolic disease
Metabolic disorder
Metabolic laminopathy
Metabolic myopathy / haemolysis
Metabolic myopathy due to lactate transporter defect
Metabolic syndrome
Metabolic syndrome with central obesity
Metabolism
Metacarpal 4/5 fusion X linked
Metachromatic leukodystrophy
Metachromatic leukodystrophy late infantile
Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, mild
Metachromatic leukodystrophy, severe
Metaphyseal anadysplasia
Metaphyseal anadysplasia 1, autosomal dominant
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia Schmid
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal chondromatosis with increased urinary excretion of D 2 hydroxyglutarate
Metaphyseal dysplasia Jansen
Metaphyseal dysplasia Spahr type
Metastatic uveal melanoma
Metatropic dysplasia
Metatropic dysplasia with thrombocytosis
Methaemoglobinaemia
Methaemoglobinaemia 1
Methaemoglobinaemia 2
Methaemoglobinaemia 3
Methemoglobinaemia and cyanosis in the newborn
Methemoglobinemia type 2
Methemoglobinemia type 4
Methemoglobinemia, beta-globin type
Methemoglobinemia, type I
Methionine adenosyltransferase I/III deficiency
Methionine adenosyltransferase I/III deficiency autosomal dominant
Methionine adenosyltransferase deficiency
Methionine synthase deficiency
Methionine synthase reductase deficiency
Methotrexate elimination impaired
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylcrotonylglycinuria
Methylenetetrahydrofolate reductase deficiency
Methylmalonate semialdehyde dehydrogenase deficiency
Methylmalonic acidaemia
Methylmalonic acidaemia seizures and intellectual disability
Methylmalonic acidemia
Methylmalonic acidemia and hyperhomocysteinemia combined
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
Methylmalonic acidemia 
Methylmalonic aciduria
Methylmalonic aciduria & homocystinuria cblC type
Methylmalonic aciduria & homocystinuria cblX type
Methylmalonic aciduria and metabolic ketoacidosis
Methylmalonic aciduria cblB type
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria mut (0) type
Methylmalonic aciduria with homocystinuria
Methylmalonyl coA epimerase deficiency
Mevalonate kinase deficiency
Mevalonate kinase deficiency modifier of
Mevalonic aciduria
Michel aplasia microtia & microdontia
Microalbuminuria
Microalbuminuria and dysplastic kidney
Microangiopathy in type 2 diabetes association
Microcephalic dwarfism
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic primordial dwarfism
Microcephalic primordial dwarfism due to RTTN deficiency
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephaly
Microcephaly & cerebellar atrophy
Microcephaly & chorioretinopathy autosomal recessive
Microcephaly & developmental delay
Microcephaly & failure to thrive
Microcephaly & hypomyelination
Microcephaly & intellectual disability
Microcephaly & mental retardation
Microcephaly & pain insensitivity
Microcephaly & pontocerebellar hypoplasia
Microcephaly 1, primary, autosomal recessive
Microcephaly 12, primary, autosomal recessive
Microcephaly 13, primary, autosomal recessive
Microcephaly 14, primary, autosomal recessive
Microcephaly 15, primary, autosomal recessive
Microcephaly 16, primary, autosomal recessive
Microcephaly 17, primary, autosomal recessive
Microcephaly 18, primary, autosomal dominant
Microcephaly 19, primary, autosomal recessive
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
Microcephaly 20, primary, autosomal recessive
Microcephaly 22, primary, autosomal recessive
Microcephaly 23, primary, autosomal recessive
Microcephaly 26, primary, autosomal dominant
Microcephaly 27, primary, autosomal dominant
Microcephaly 28, primary, autosomal recessive
Microcephaly 4, primary, autosomal recessive
Microcephaly 5, primary, autosomal recessive
Microcephaly 6, primary, autosomal recessive
Microcephaly 7, primary, autosomal recessive
Microcephaly 9, primary, autosomal recessive
Microcephaly Developmental delay Speech delay Learning disability and Intellectual disability.
Microcephaly Failure to thrive Fine and gross motor delay brain atrophy
Microcephaly Fibular hemimelia
Microcephaly Fine/Gross motor delay Intellectual disability Blindness Hypotonia Seizures
Microcephaly Fine/Gross motor delay Learning disability Intellectual disability Hypotonia Muscle weakness Constipation Asthma Congenital hip dislocation
Microcephaly Fine/Gross motor delay Speech delay Global developmental delay Facial dysmorphism sloping forehead Seizures Occipital encephalocele
Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Dystonia Myopathy
Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Hypotonia Joint hyperextensibility Club foot
Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Hypotonia Spasticity Elevated citrulline
Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Seizures Ophthalmoplegia
Microcephaly Fine/Gross motor delay Speech delay Intellectual disability Stereotypic behavior Cerebellar pontine hypoplasia Hypotonia Seizures
Microcephaly Gross motor delay Fine motor delay Speech delay Learning disability Atrial septal defect Seizures aspiration pneumonia Hypotonia Failure to thrive Gastrointestinal reflux Prematurity
Microcephaly Gross motor delay Intellectual disability Hypotonia Facial dysmorphism
Microcephaly IUGR Cleft lip/palate Brain atrophy Hypotonia Contractures Syndactyly Scoliosis Vertebral anomaly Ambiguous genitalia
Microcephaly Intellectual disability Seizure Brain atrophy Scoliosis Hip dislocation Hyperpigmented lesions
Microcephaly Learning disability Ischemic lesion Lactic acidemia
Microcephaly Speech delay Intellectual disability Spasticity Contractures
Microcephaly agenesis of corpus callosum cerebellar hypoplasia seizures and asymetric extremities
Microcephaly and Speech delay
Microcephaly and West syndrome
Microcephaly and cataracts
Microcephaly and chorioretinopathy 1
Microcephaly and developmental delay
Microcephaly and dysmorphic features
Microcephaly and intellectual disability
Microcephaly and motor deficits
Microcephaly and progressive cerebellar ataxia
Microcephaly and psychomotor delay
Microcephaly and short stature
Microcephaly and strabismus
Microcephaly associated vasculopathy
Microcephaly autism spectrum disorder
Microcephaly autosomal recessive 2 with early onset acanthosis & hyperkeratosis
Microcephaly autosomal recessive primary with short stature
Microcephaly capillary malformation syndrome
Microcephaly cerebellar atrophy Nystagmus and spastic tetraplegia
Microcephaly cerebellar atrophy Nystagmus dystonia and spastic tetraplegia
Microcephaly cerebellar atrophy scoliosis and spastic tetraplegia
Microcephaly cerebellar hypoplasia growth retardation & brain malformations
Microcephaly congenital
Microcephaly corpus callosum agenesis schizencephaly polymicrogyria and vermis & right third nerve hypoplasia
Microcephaly cryptorchidism and inguinal hernia
Microcephaly deafness and severe psychomotor retardation
Microcephaly developmental delay
Microcephaly developmental delay & diabetes
Microcephaly developmental delay agenesis of corpus callosum neonatal seizures
Microcephaly developmental delay and atrial septal defect
Microcephaly developmental delay and brittle hair and nails
Microcephaly developmental delay and epilepsy
Microcephaly developmental delay and facial dysmorphism
Microcephaly developmental delay and hypotonia
Microcephaly developmental delay and myoclonic seizure
Microcephaly developmental delay hypotonia renal Fanconi syndrome & seizures
Microcephaly developmental delay seizures and hypotonia
Microcephaly developmental regression
Microcephaly early infantile epileptic encephalopathy Leigh like syndrome dilated cardiomyopathy and renal insufficiency
Microcephaly early onset seizures developmental delay & hearing loss
Microcephaly early onset seizures spasticity & basal ganglia involvement
Microcephaly epileptic encephalopathy & spastic tetraparesis
Microcephaly epileptic encephalopathy and psychomotor delay
Microcephaly epileptic encephalopathy blindness & failure to thrive
Microcephaly facial dysmorphism and short stature
Microcephaly global developmental delay bilateral squint eyes hypotonia
Microcephaly global developmental delay brain atrophy hypotonia and epilepsy.
Microcephaly global developmental delay hypertonia spasticity.
Microcephaly global developmental delay hypoxic ischemic encephalopathy hypotonia
Microcephaly global developmental delay intellectual disability hypotonia iron deposition in globus pallidus bilaterally
Microcephaly global developmental delay seizures stereotypic hand movements gait abnormalities abnormal muscle tone and scoliosis
Microcephaly growth failure & retinopathy
Microcephaly hypomyelination and epileptic encephalopathy
Microcephaly infantile spasms astigmatism psychomotor delay & feeding difficulties
Microcephaly intellectual disability & developmental delay
Microcephaly intellectual disability & psychiatric disturbances
Microcephaly intellectual disability and absence of language
Microcephaly intellectual disability and seizures
Microcephaly intellectual disability and spasticity
Microcephaly intellectual disability cataract and neck hyperpigmentation
Microcephaly intellectual disability cerebral atrophy & intractable seizures
Microcephaly intellectual disability epilepsy and hypertonia
Microcephaly intellectual disability seizures & hearing loss
Microcephaly intellectual disability spasticity and dysmorphism
Microcephaly intellectual disability speech impairment & distinct facial features
Microcephaly learning disability developmental regression severe hypotonia
Microcephaly lymphoedema & chorioretinopathy
Microcephaly motor delay intellectual disability
Microcephaly motor delay speech delay abnormal nails
Microcephaly optic atrophy and hypoplasia lactic acidemia
Microcephaly paraplegia
Microcephaly polymicrogyria & growth restriction
Microcephaly postnatal
Microcephaly postnatal progressive with seizures and brain atrophy
Microcephaly primary
Microcephaly primary autosomal recessive
Microcephaly primary autosomal recessive 2
Microcephaly progressive & hypomyelinating leukodystrophy
Microcephaly progressive seizures & cerebellar atrophy
Microcephaly psychomotor retardation & epilepsy
Microcephaly seizures
Microcephaly seizures & developmental delay
Microcephaly seizures & oculomotor apraxia
Microcephaly seizures & progressive cerebral atrophy
Microcephaly seizures and failure to thrive
Microcephaly seizures and muscular weakness
Microcephaly seizures spasticity & brain atrophy
Microcephaly severe
Microcephaly severe foetal
Microcephaly severe with Intellectual disability
Microcephaly short stature & brain malformations
Microcephaly short stature & limb abnormalities syndrome
Microcephaly short stature & polymicrogyria with seizures
Microcephaly short stature and glucose homeostasis abnormalities
Microcephaly simplified gyral pattern pontocerebellar hypoplasia & seizures
Microcephaly skeletal dysplasia & cerebellar vermis hypoplasia
Microcephaly small stature ASD monorchism eye abnormalities
Microcephaly speech delay and bilateral toe syndactyly
Microcephaly speech delay intellectual disability
Microcephaly syndrome lethal
Microcephaly syndrome non lethal
Microcephaly syndromic with intellectual disability cerebral malformations and dysmorphic facial features
Microcephaly thin corpus callosum ID syndrome
Microcephaly vision impairment absent corpus callosum and epilepsy
Microcephaly with / without cortical malformations
Microcephaly with cerebellar hypoplasia
Microcephaly with cortical polymicogyria
Microcephaly with or without chorioretinopathy lymphoedema or mental retardation
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcephaly with short stature
Microcephaly with short stature and intellectual disability
Microcephaly with simplified gyration epilepsy & diabetes
Microcephaly, developmental delay, and brittle hair syndrome
Microcephaly, epilepsy, and diabetes syndrome
Microcephaly, epilepsy, and diabetes syndrome 2
Microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, normal intelligence and immunodeficiency
Microcephaly, seizures, and developmental delay
Microcephaly, short stature, and impaired glucose metabolism 1
Microcephaly, short stature, and impaired glucose metabolism 2
Microcephaly, short stature, and limb abnormalities
Microcephaly-capillary malformation syndrome
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcolon megacystic syndrome
Microcornea
Microcornea cataract & cone rod dystrophy
Microcornea myopic chorioretinal atrophy and telecanthus
Microcornea rod cone dystrophy cataract & posterior staphyloma
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
Microcornea-myopic chorioretinal atrophy
Microcytic anaemia
Microcytic anaemia & hyperinflammation
Microcytic anaemia & iron overload
Microcytic anemia
Microcytic anemia with liver iron overload
Microcytic hypochromic anaemia
Microcytic hypochromic anaemia & increased fetal haemoglobin
Microcytosis
Microcytosis & hypochromia with splenomegaly
Microcytosis and hypochromia
Microform cleft
Microform holoprosencephaly
Micrognathia
Micrognathia & facial dysmorphism
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Microhaematuria and proteinuria
Microlissencephaly
Microlissencephaly with multinucleated neurons
Micropenis
Microphthalmia
Microphthalmia & cataract
Microphthalmia & choroidal osteoma
Microphthalmia & coloboma
Microphthalmia and agenesis of corpus callosum
Microphthalmia and anterior segment dysgenesis
Microphthalmia and diaphragmatic hernia
Microphthalmia anophthalmia and coloboma disease
Microphthalmia bilateral
Microphthalmia cataract and iris abnormality
Microphthalmia coloboma & optic nerve hypoplasia
Microphthalmia colobomatous
Microphthalmia congenital cataracts and microcephaly
Microphthalmia congenital cataracts and microcornea
Microphthalmia isolated with coloboma 7
Microphthalmia renal aplasia hearing impairment developmental delay micropenis & cryptochordism
Microphthalmia sclerocornea Peters anomaly and aphakia
Microphthalmia syndromic
Microphthalmia syndromic 7
Microphthalmia syndromic 9
Microphthalmia type 5
Microphthalmia with associated anomalies
Microphthalmia with bilateral microcornea & Peters anomaly
Microphthalmia with brain and digit anomalies
Microphthalmia with corneal opacification
Microphthalmia with limb anomalies
Microphthalmia with retinitis pigmentosa
Microphthalmia with sclerocornea
Microphthalmia, cataracts, and iris abnormalities
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, isolated, with coloboma 9
Microphthalmia, syndromic 1
Microphthalmia, syndromic 11
Microphthalmia, syndromic 12
Microphthalmos with staphylomatous malformation
Microscopic hematuria
Microsomal triglyceride transfer protein deficiency mild
Microspherophakia
Microtia
Microtia atresia
Microvillus inclusion disease
Midaortic syndrome
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Migalastat response
Migraine
Migraine & advanced sleep phase
Migraine duration
Migraine severity
Migraine with and without aura
Migraine with aura
Migraine with complex neurological aura
Migraine without aura
Migraine, familial basilar
Migraine, familial hemiplegic, 1
Migraine, familial hemiplegic, 2
Migraine, familial hemiplegic, 3
Migrating focal seizures of infancy
Migrating partial seizures of infancy
Mild Canavan disease
Mild asymmetric left ventricular hypertrophy with pulmonic stenosis and palate linea alba
Mild bleeding
Mild developmental delay learning difficulties muscle weakness and progressive spastic diplegia
Mild fine and gross motor delay dextrocardia club foot deformity
Mild intellectual disability dysmorphism mild obstructive sleep apnea syndrome and poor fine and gross motor skills
Mild intellectual disability with microphthalmia coloboma hypopituitarism facial dysmorphology and dental anomalies
Mild intellectual disability with speech & language delay
Mild sun sensitivity
Mild to moderate brain calcification
Mild ventriculomegaly cerebellar hypoplasia corpus callosum agenesis rotated vermis and delayed gyration
Miles Carpenter syndrome
Miller Dieker lissencephaly syndrome
Miller syndrome
Milroy disease
Minicore myopathy
Minicore myopathy with external ophthalmoplegia
Minimal change glomerulonephritis
Minimal change nephrotic syndrome
Minor connective tissue anomaly
Mirror movements 2
Mirror movements 4
Mirror movements congenital
Miscarriage
Miscarriage recurrent
Mismatch negativity
Mismatch repair defect
Mismatch repair defect partial
Missed abortion
Mitchell Riley syndrome
Mitchell Riley syndrome with childhood onset diabetes mellitus
Mitochondrial ATP synthase deficiency
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion
Mitochondrial DNA depletion & congenital anomalies
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 16A
Mitochondrial DNA depletion syndrome 17
Mitochondrial DNA depletion syndrome 18
Mitochondrial DNA depletion syndrome 20 (MNGIE type)
Mitochondrial DNA depletion syndrome 3
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome encephalomyopathic type
Mitochondrial DNA depletion syndrome hepatic
Mitochondrial DNA depletion syndrome hepatocerebral
Mitochondrial DNA depletion syndrome late onset
Mitochondrial DNA depletion syndrome myopathic
Mitochondrial DNA depletion syndrome type 7
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA instability & optic atrophy plus
Mitochondrial HMG CoA synthase deficiency
Mitochondrial ataxia
Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy Leigh syndrome neuropathy & optic atrophy
Mitochondrial cardiomyopathy infantile
Mitochondrial cardiomyopathy with biventricular fibro adipose replacement
Mitochondrial complex 1 deficiency
Mitochondrial complex 1 deficiency neonatal
Mitochondrial complex 1 deficiency, mitochondrial type 1
Mitochondrial complex 1 deficiency, nuclear type 11
Mitochondrial complex 1 deficiency, nuclear type 12
Mitochondrial complex 1 deficiency, nuclear type 13
Mitochondrial complex 1 deficiency, nuclear type 14
Mitochondrial complex 1 deficiency, nuclear type 16
Mitochondrial complex 1 deficiency, nuclear type 17
Mitochondrial complex 1 deficiency, nuclear type 18
Mitochondrial complex 1 deficiency, nuclear type 19
Mitochondrial complex 1 deficiency, nuclear type 2
Mitochondrial complex 1 deficiency, nuclear type 21
Mitochondrial complex 1 deficiency, nuclear type 22
Mitochondrial complex 1 deficiency, nuclear type 24
Mitochondrial complex 1 deficiency, nuclear type 26
Mitochondrial complex 1 deficiency, nuclear type 29
Mitochondrial complex 1 deficiency, nuclear type 3
Mitochondrial complex 1 deficiency, nuclear type 30
Mitochondrial complex 1 deficiency, nuclear type 31
Mitochondrial complex 1 deficiency, nuclear type 32
Mitochondrial complex 1 deficiency, nuclear type 35
Mitochondrial complex 1 deficiency, nuclear type 37
Mitochondrial complex 1 deficiency, nuclear type 4
Mitochondrial complex 1 deficiency, nuclear type 5
Mitochondrial complex 1 deficiency, nuclear type 6
Mitochondrial complex 1 deficiency, nuclear type 8
Mitochondrial complex 1 deficiency, nuclear type 9
Mitochondrial complex 2 deficiency, nuclear type 2
Mitochondrial complex 4 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 11
Mitochondrial complex 4 deficiency, nuclear type 16
Mitochondrial complex 4 deficiency, nuclear type 17
Mitochondrial complex 4 deficiency, nuclear type 18
Mitochondrial complex 4 deficiency, nuclear type 20
Mitochondrial complex 4 deficiency, nuclear type 3
Mitochondrial complex 4 deficiency, nuclear type 4
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex II deficiency
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II/III deficiency infantile
Mitochondrial complex III deficiency
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 2
Mitochondrial complex III deficiency nuclear type 4
Mitochondrial complex III deficiency nuclear type 5
Mitochondrial complex III deficiency nuclear type 6
Mitochondrial complex III deficiency nuclear type 8
Mitochondrial complex III deficiency nuclear type 9
Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial complex V deficiency nuclear type
Mitochondrial cytopathy
Mitochondrial deafness modifier of
Mitochondrial deficiency syndrome
Mitochondrial disease
Mitochondrial disease multisystemic
Mitochondrial disease systemic
Mitochondrial disorder
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
Mitochondrial dynamics impairment with myopathy and ataxia
Mitochondrial dysfunction
Mitochondrial dysfunction / disease
Mitochondrial dysfunction/disease
Mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy adult onset
Mitochondrial encephalomyopathy early onset and seizures
Mitochondrial encephalomyopathy lethal neonatal
Mitochondrial encephalomyopathy slowly progressive
Mitochondrial encephalopathy
Mitochondrial encephalopathy early onset
Mitochondrial encephalopathy early onset & cytochrome c oxidase deficiency
Mitochondrial encephalopathy fatal infantile Alpers
Mitochondrial encephalopathy fatal neonatal
Mitochondrial encephalopathy infantile onset
Mitochondrial encephalopathy with cardiac involvement
Mitochondrial encephalopathy with complex I deficiency
Mitochondrial encephalopmyopathy & retinoblastoma
Mitochondrial hepatoencephalopathy neonatal
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial intermediate peptidase deficiency
Mitochondrial leukoencephalopathy
Mitochondrial leukoencephalopathy & cytochrome c oxidase deficiency
Mitochondrial muscle myopathy
Mitochondrial myopathy
Mitochondrial myopathy & hypertrophic cardiomyopathy
Mitochondrial myopathy and sideroblastic anaemia
Mitochondrial myopathy autosomal dominant
Mitochondrial myopathy early onset
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial neurogastrointestinal encephalopathy
Mitochondrial neurogastrointestinal encephalopathy like syndrome
Mitochondrial phosphate carrier deficiency
Mitochondrial progressive myopathy
Mitochondrial pyruvate carrier deficiency
Mitochondrial respiratory chain complex IV deficiency
Mitochondrial respiratory chain disorder
Mitochondrial respiratory chain dysfunction
Mitochondrial short chain enoyl CoA hydratase 1 deficiency
Mitochondrial short chain enoyl CoA hydratase deficiency
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Mitochondrial spinocerebellar ataxia and epilepsy
Mitochondrial trifunctional protein / long chain 3 hydroxy acyl CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency & rhabdomyolysis
Mitochondriopathy
Mitochondriopathy with optic atrophy
Mitochondriopathy with optic nerve atrophy
Mitomycin C resistance
Mitral valve dystrophy
Mitral valve prolapse
Mitral valve prolapse and insufficiency high arched palate joint hypermobility and arachnodactyly
Mitral valve prolapse, myxomatous 2
Mitral valve prolapse, myxomatous 3
Mixed arrhythmogenic phenotype
Mixed vascular malformation with leg lymphoedema and skin hypoplasia with laxity
Miyoshi distal myopathy
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Miyoshi myopathy
Miyoshi myopathy non dysferlin
Moderate developmental delay facial dysmorphisms and seizures
Moderate global developmental delay
Moderate intellectual disability and seizures
Moderate intellectual disability and speech delay
Moderate intellectual disability ataxia and tremor
Moderate intellectual disability facial dysmorphism seizures speech delay with autistic mannerisms and OCD tendencies
Moderate intellectual disability facial dysmorphism speech delay microcephaly and brain abnormalities
Moderate intellectual disability facial dysmorphism speech delay microcephaly small stature and clinodactyly
Moderate intellectual disability failure to thrive microcephaly congenital cataracts & brain abnormalities
Moderate intellectual disability hypotonia speech delay hearing impairment spastic gait and involuntary movements
Moderate intellectual disability infantile spasms and seizures
Moderate intellectual disability macrocephaly seizures and frontal bossing
Moderate intellectual disability optic atrophy fatigue and profound episode of liver failure
Moderate intellectual disability seizures autism spectrum disorder and speech delay
Moderate intellectual disability seizures gross motor delay generalized muscle weakness and fatigue
Moderate intellectual disability speech delay & café au lait macules
Moderate intellectual disability speech delay and autism spectrum disorder
Moderate intellectual disability speech delay facial dysmorphism macrocephaly hypotonia seizures and brain abnormalities
Moderate intellectual disability speech delay facial dysmorphism seizures macrocephaly and obstructive hydrocephalus
Moderate intellectual disability speech delay growth delay and rickets
Moderate intellectual disability speech delay macrocephaly facial dysmorphism and Intermitten esotropia with clumsy gait
Moderate intellectual disability speech delay seizures and autism spectrum disorder
Moderate intellectual disability speech delay seizures macrocephaly and hypotonia
Moderate intellectual disability with Facial dysmorphism behavioral issues and seizures
Moderate intellectual disability with Speech delay hypotonia and macrocephaly
Moderate intellectual disability with autism spectrum disorder speech delay and seizures
Moderate intellectual disability with developmental delay seizures microcephaly and facial dysmorphism.
Moderate intellectual disability with facial dysmorphism ataxia hypotonia microcephaly and seizures
Moderate intellectual disability with hypotonia ptosis and brain abnormalities
Moderate intellectual disability with seizures
Moderate intellectual disability with seizures speech delay ataxia and spastic diplegia
Moderate intellectual disability with speech delay
Moderate intellectual disability with speech delay and Seizures
Moderate intellectual disability with speech delay and seizures
Moderate intellectual disability with speech delay and siezures
Modic changes
Modifies self assembly and mechanical properties of elastic matrix
Modulated interaction with Nesprin 2
Moebius syndrome
Mohr Majewski syndrome
Mohr Tranebjaerg syndrome
Molar tooth on imaging
Molybdenum cofactor deficiency
Molybdenum cofactor deficiency B
Mondini deformity
Monilethrix
Monocarboxylate transporter 1 deficiency
Monocarboxylate transporter 1 deficiency, autosomal dominant
Monocarboxylate transporter 8 deficiency
Monocular elevation deficiency
Monocytopaenia & mycobacterial infection syndrome
Monocytopenia with susceptibility to infections
Monogenic Dilated Cardiomyopathy
Monogenic diabetes
Monomelic amyotrophy
Monosomy 7 myelodysplasia and leukemia syndrome 1
Monosomy 7 myelodysplasia and leukemia syndrome 2
Mood disorders reduced risk of childhood onset
Mood dysregulation disorder
Morphological abnormalities of the sperm flagella
Morquio disease B
Morquio syndrome
Mosaic variegated aneuploidy
Motor & cognitive deterioration congenital developmental anomalies of the hands & cletf palate
Motor & sensory neuropathy
Motor & sensory neuropathy and corpus callosum agenesis
Motor and sensory axonal neuropathy plus microcephaly
Motor and sensory neuropathy with pyramidal signs
Motor and sensory polyneuropathy
Motor and speech delay
Motor and speech delay agenesis of corpus callosum white matter abnormal signal spasticity muscle weakness
Motor and speech delay hypotonia and intractable seizures
Motor and speech delay intellectual disability developmental regression generalized tonic clonic seizures spasticity
Motor and speech delay intellectual disability learning disability developmental regression periventricular leukomalacia
Motor axonal neuropathy
Motor delay C1 dysplasia hearing loss tracheomalacia and cyrptorchidism
Motor delay Speech delay Developmental regression Facial dysmorphism coarse features Spasticity Scoliosis
Motor delay enlargement of subarachnoid spaces
Motor delay sensory impairment and contractures
Motor delay speech delay & intellectual disability
Motor delay speech delay hypotonia
Motor delay speech delay intellectual disability
Motor delay speech delay intellectual disability seizures
Motor delay speech delay seizures abnormal hair/pigmentation
Motor delay speech disorder and spastic hemiplegia
Motor disability microcephaly mental retardation
Motor neuron disease
Motor neuron disease Madras type
Motor neuron disease childhood onset
Motor neuron disease juvenile
Motor neuron disease lower
Motor neuron disease progressive
Motor neuron disease scoliosis chest deformity
Motor neuropathy
Motor neuropathy and distal myopathy
Motor neuropathy axonal
Motor neuropathy distal
Motor neuropathy distal hereditary
Motor neuropathy distal hereditary type V
Motor neuropathy distal type VIIB
Motor neuropathy early onset
Motor neuropathy hereditary
Motor neuropathy nonprogressive
Motor sensory defects cortical dysgenesis and microcephaly
Motor sensory neuropathy
Motor sensory neuropathy 1
Motor sensory neuropathy with proximal involvement
Motor weakness contractures and feeding & respiratory difficulties
Movement disorder
Movement disorder childhood onset
Movement disorders and intellectual disability without seizures
Mowat Wilson syndrome
Mowat-Wilson syndrome
Moyamoya angiopathy
Moyamoya angiopathy early onset
Moyamoya disease
Moyamoya disease & PHACE syndrome
Moyamoya disease & hypertension
Moyamoya disease with early-onset achalasia
Moyamoya syndrome in neurofibromatosis
Muckle Wells syndrome
Mucociliary clearance disorder with reduced generation of multiple motile cilia
Mucocutaneous candidiasis
Mucolipidosis
Mucolipidosis II
Mucolipidosis IIA/B
Mucolipidosis III
Mucolipidosis III gamma
Mucolipidosis IIIA
Mucolipidosis IIIA/B
Mucolipidosis IV
Mucolipidosis intermediate
Mucolipidosis type II
Mucolipidosis type III gamma
Mucolipidosis type IV
Mucopolysaccharidosis
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIIC
Mucopolysaccharidosis IIId
Mucopolysaccharidosis IVa
Mucopolysaccharidosis IX
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, type 10
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Mucopolysaccharidosis, type II, mild form
Mucopolysaccharidosis, type vi, severe
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Muenke syndrome
Muir Torre syndrome
Mulibrey nanism
Mulibrey nanism syndrome
Mullegama-Klein-Martinez syndrome
Mullerian aplasia and hyperandrogenism
Multi minicore disease
Multi minicore disease with cardiac involvement
Multi organ autoimmune disease
Multi organ autoimmune disease early onset
Multi organ disorder
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric carpotarsal osteolysis
Multicentric osteolysis nodulosis & arthropathy
Multicentric osteolysis, nodulosis, and arthropathy
Multicystic dysplastic kidney
Multicystic dysplastic kidney and anuria
Multicystic kidney disease
Multifocal aneurysmal disease
Multifocal best vitelliform macular dystrophy
Multifocal breast carcinoma
Multifocal dystonia late onset
Multifocal ectopic Purkinje related premature contractions
Multifocal vitelliform dystrophy
Multifollicular thyroid carcinoma
Multilocus imprinting disorder
Multiminicore congenital myopathy
Multiminicore disease
Multiminicore/minicore/multicore disease
Multinodular goiter
Multinodular goiter and papillary thyroid carcinoma
Multinodular goiter with schwannomatosis
Multiorgan polycystic disease neonatal onset
Multiorgan venous and lymphatic defect syndrome
Multiple acyl CoA dehydrogenase deficiency
Multiple acyl CoA dehydrogenase deficiency and/or multiple respiratory chain deficiency
Multiple acyl CoA dehydrogenase deficiency riboflavin responsive
Multiple acyl-CoA dehydrogenase deficiency
Multiple adenomas
Multiple autoimmune syndrome
Multiple basal cell carcinoma
Multiple benign circumferential skin creases on limbs 1
Multiple cancers
Multiple carboxylase deficiency
Multiple colorectal adenoma
Multiple colorectal adenomas
Multiple congenital anomalies
Multiple congenital anomalies & seizures
Multiple congenital anomalies X linked
Multiple congenital anomalies developmental disorder and microcephaly
Multiple congenital anomalies hypotonia seizures syndrome
Multiple congenital anomalies hypotonia seizures syndrome 3
Multiple congenital anomalies that include esophageal atresia left renal agenesis polysynadactyly vertebral segmentation anomaly and VSD
Multiple congenital anomalies with intellectual disability
Multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple congenital anomalies-neurodevelopmental syndrome, x-linked
Multiple congenital anomalies/intellectual disability
Multiple congenital exostosis
Multiple cutaneous and mucosal venous malformations
Multiple cutaneous and uterine leiomyoma syndrome
Multiple endocrine neoplasia
Multiple endocrine neoplasia 1
Multiple endocrine neoplasia 1 with paraganglioma
Multiple endocrine neoplasia 2
Multiple endocrine neoplasia 2A
Multiple endocrine neoplasia 2B
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia, type 2a
Multiple endocrine neoplasia, type 2b
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple epiphyseal dysplasia, Beighton type
Multiple exostoses
Multiple exostoses 1
Multiple exostoses 2
Multiple fetal abnormalities
Multiple fibrofolliculomas
Multiple fractures blue sclerae & glaucoma
Multiple gastrointestinal atresias
Multiple idiopathic cervical root resorption
Multiple intestinal atresia
Multiple joint contracture and polyhydramnios
Multiple joint contractures
Multiple leiomyomatosis
Multiple malformation syndrome
Multiple malformations
Multiple meningiomas
Multiple mitochondrial DNA deletion disorder
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 4
Multiple mitochondrial dysfunctions syndrome 5
Multiple mitochondrial dysfunctions syndrome 6
Multiple mole melanoma syndrome
Multiple morphological abnormalities of the flagella
Multiple morphological abnormalities of the sperm flagella
Multiple myeloma
Multiple myelomas
Multiple osteochondromas
Multiple pituitary hormone deficiency
Multiple prenatal fractures
Multiple primary cancers
Multiple primary melanomas
Multiple refractory myofibromatosis infantile
Multiple renal cysts
Multiple respiratory chain deficiencies
Multiple sclerosis
Multiple sclerosis increased risk
Multiple sclerosis like features
Multiple sclerosis protection
Multiple sclerosis protection association
Multiple sclerosis reduced risk
Multiple sclerosis susceptibility
Multiple sclerosis susceptibility to
Multiple sclerosis with malignant melanoma
Multiple sclerosis/autoimmune disease
Multiple self healing palmoplantar carcinoma
Multiple self healing squamous epithelioma
Multiple self healing squamous epithelioma & Loeys Dietz syndrome
Multiple skeletal fractures
Multiple sulfatase deficiency
Multiple sulphatase deficiency
Multiple synostoses and craniosynostosis
Multiple synostoses syndrome
Multiple synostoses syndrome 2
Multiple synostoses syndrome 3
Multiple synostoses syndrome 4
Multiple synostoses syndrome and brachydactyly type A1
Multiple synostosis syndrome
Multiple system atrophy
Multiple system atrophy cerebellar type
Multiple system atrophy increased risk
Multiple system atrophy reduced risk
Multiple sytem atrophy
Multiple uterine leiomyomas
Multisystem ataxic syndrome
Multisystem developmental syndrome with severe growth retardation
Multisystem disease
Multisystem disorder
Multisystem inflammatory disease neonatal onset (NOMID)
Multisystem proteinopathy
Multisystem proteinopathy and amyotrophic lateral sclerosis
Multisystem smooth muscle dysfunction
Multisystem syndrome without congenital contracture
Multisystemic mitochondrial disease
Multisystemic smooth muscle dysfunction syndrome
Multisystemic syndrome
Mungan syndrome
Muscle and central nervous system defects with progr. ext. ophthalmoparesis ptosis and ataxia
Muscle and heart defects
Muscle and heart defects with lactic acidosis
Muscle atrophy
Muscle atrophy fibre type 2 dominance cataract
Muscle central nervous system and heart defects with lactic acidosis
Muscle central nervous system and liver defects with failure to thrive leukoencephalopathy and lactic acidosis
Muscle creatine kinase deficiency
Muscle defects seizures deafness and renal tubular acidosis
Muscle eye brain disease
Muscle eye brain disease and/or Fukuyama congenital muscular dystrophy like
Muscle eye brain disease like phenotype
Muscle eye brain like disease
Muscle eye brain syndrome/Fukuyama CMD
Muscle eye brain/Fukuyama muscular dystrophy
Muscle hypotonia developmental delay failure to thrive and microcephaly
Muscle hypotonia dystonia failure to thrive sensorineural deafness and dysmorphism
Muscle hypotony proximal tubulopathy and complex I deficiency
Muscle hypotony ptosis and epilepsy
Muscle pain after exercise & rhabdomyolysis
Muscle response to training
Muscle weakness
Muscle weakness & arrhythmia
Muscle weakness & arthrogryposis
Muscle weakness & complex I deficiency
Muscle weakness Exercise intolerance Spinal Muscular atrophy Proximal weakness
Muscle weakness Scoliosis Creatine kinase abnormalities
Muscle weakness and atrophy
Muscle weakness and cardiac conduction defects
Muscle weakness and distal limb deformity
Muscle weakness and respiratory failure
Muscle weakness creatine phosphokinase abnormalities
Muscle weakness demyelination and neuropathy
Muscle weakness early childhood onset intellectual disability & epilepsy
Muscle weakness exercise intolerance and myalgia
Muscle weakness exercise intolerance hearing loss arhythmia
Muscle weakness limb girdle
Muscle weakness ptosis and scoliosis
Muscle weakness recurrent hyper CK rhabdomyolysis low plasma carnitine
Muscle weakness tremors and hypotonia
Muscular atrophy
Muscular atrophy of the distal upper extremities juvenile
Muscular diseases
Muscular dystrophy
Muscular dystrophy & mental retardation
Muscular dystrophy Becker
Muscular dystrophy Duchenne
Muscular dystrophy Duchenne like
Muscular dystrophy Duchenne modifier of
Muscular dystrophy Duchenne/Becker
Muscular dystrophy Emery Dreifuss
Muscular dystrophy Emery Dreifuss 3
Muscular dystrophy Emery Dreifuss 4
Muscular dystrophy Emery Dreifuss with atrial paralysis
Muscular dystrophy Fukuyama
Muscular dystrophy LAMA2 related late onset
Muscular dystrophy LMNA related
Muscular dystrophy and arthrogryposis
Muscular dystrophy and hypoglycosylation of alpha dystroglycan
Muscular dystrophy and myopathy
Muscular dystrophy brain abnormalities and generalized epilepsy
Muscular dystrophy cardiomyopathy and triangular tongues
Muscular dystrophy congenital
Muscular dystrophy congenital 1A
Muscular dystrophy congenital 1A atypical
Muscular dystrophy congenital 1D
Muscular dystrophy congenital POMT1 related
Muscular dystrophy congenital with mental retardation
Muscular dystrophy congenital/mental retardation
Muscular dystrophy developmental delay and non specific white matter lesions
Muscular dystrophy distal modifier of
Muscular dystrophy dystroglycanopathy
Muscular dystrophy dystroglycanopathy (limb girdle) type C 9
Muscular dystrophy dystroglycanopathy type A
Muscular dystrophy dystroglycanopathy type A3
Muscular dystrophy dystroglycanopathy type A4
Muscular dystrophy dystroglycanopathy with brain & eye anomalies
Muscular dystrophy early onset with sensorineural hearing loss
Muscular dystrophy early onset with sensorineural hearing loss and primary ovarian insufficiency
Muscular dystrophy lamin A/C related
Muscular dystrophy limb girdle
Muscular dystrophy limb girdle / Miyoshi myopathy
Muscular dystrophy limb girdle 10
Muscular dystrophy limb girdle 1A
Muscular dystrophy limb girdle 1B
Muscular dystrophy limb girdle 1B / Isolated neck rigidity
Muscular dystrophy limb girdle 1D
Muscular dystrophy limb girdle 1E
Muscular dystrophy limb girdle 1F
Muscular dystrophy limb girdle 1G
Muscular dystrophy limb girdle 2
Muscular dystrophy limb girdle 2A
Muscular dystrophy limb girdle 2B
Muscular dystrophy limb girdle 2C
Muscular dystrophy limb girdle 2D
Muscular dystrophy limb girdle 2E
Muscular dystrophy limb girdle 2F
Muscular dystrophy limb girdle 2H
Muscular dystrophy limb girdle 2I
Muscular dystrophy limb girdle 2J
Muscular dystrophy limb girdle 2L
Muscular dystrophy limb girdle 2N
Muscular dystrophy limb girdle 2Q
Muscular dystrophy limb girdle 2S
Muscular dystrophy limb girdle 2T / congenital myasthenic syndrome
Muscular dystrophy limb girdle adult onset
Muscular dystrophy limb girdle late onset
Muscular dystrophy limb girdle type 2M
Muscular dystrophy limb girdle with cardiomyopathy
Muscular dystrophy limb girdle with mental retardation
Muscular dystrophy limb girdle with myasthenic syndrome
Muscular dystrophy limb girdle with prominent scapular atrophy
Muscular dystrophy limb girdle with very mild learning disability
Muscular dystrophy megaconial
Muscular dystrophy mental retardation & enlarged mitochondria
Muscular dystrophy merosin deficient
Muscular dystrophy merosin deficient congenital 1A
Muscular dystrophy progressive
Muscular dystrophy progressive axial
Muscular dystrophy with brain malformations
Muscular dystrophy with cataracts and mild cognitive impairment
Muscular dystrophy with cerebellar involvement
Muscular dystrophy with enlarged heart
Muscular dystrophy with epidermolysis bullosa
Muscular dystrophy with lipodystrophy
Muscular dystrophy with mental retardation
Muscular dystrophy with progressive neurological involvement
Muscular dystrophy with rigid spine
Muscular dystrophy with short stature cataracts and intellectual disability
Muscular dystrophy without contractures
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy, limb-girdle, autosomal recessive 26
Muscular dystrophy, limb-girdle, autosomal recessive 27
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy type B6
Musculocontractural Ehlers Danlos syndrome
Musculoskeletal disorder
Musician's dystonia
Mutilating keratoderma
Mutilating sensory neuropathy with spastic paraplegia
Myalgia
Myalgia and muscle cramps
Myalgia facial weakness
Myalgia fatigue and mild myopathic features
Myasthenia
Myasthenia & myopathy
Myasthenia cortical hyperexcitability ataxia & intellectual disability
Myasthenia gravis increased risk
Myasthenia limb girdle with tubular aggregates
Myasthenic syndrome congenital
Myasthenic syndrome presynaptic congenital with altered synaptic vesicle homeostasis
Myasthenic syndrome, congenital, 1B, fast-channel
Myasthenic syndrome, congenital, 23, presynaptic
Myasthenic syndrome, congenital, 24, presynaptic
Myasthenic syndrome, slow-channel congenital
Mycobacterial disease mendelian susceptibility to
Mycobacterial infection
Mycobacteriosis atypical
Mycobacteriosis atypical familial
Mycobacterium & Salmonella infections disseminated
Myelodysplasia & leukaemia syndrome with monosomy 7
Myelodysplasia syndrome & acute myeloid leukaemia
Myelodysplasia with acute myeloid leukaemia
Myelodysplasia/acute myeloid leukaemia
Myelodysplastic syndrome
Myelodysplastic syndrome / acute myeloid leukaemia
Myelodysplastic syndrome / acute myeloid leukaemia & immunodeficiency
Myelodysplastic syndrome and transient monosomy 7
Myelodysplastic syndrome hypoplastic
Myelodysplastic syndrome progressed to acute myeloid leukemia
Myelodysplastic syndrome progressing to acute myeloid leukemia
Myelodysplastic syndrome with cytopenia immunodeficiency and neurological symptoms
Myelodysplastic/acute leukaemia predisposition syndrome
Myelodysplastic/myeloproliferative disease
Myeloid leukaemia increased risk
Myeloid malignancy syndromes
Myeloid neoplasm
Myeloid neoplasm predisposition to
Myelomeningocele
Myelomonocytic leukaemia juvenile
Myeloneuropathy dominant
Myelopathy (OPLL)
Myeloperoxidase deficiency
Myeloproliferative disorder
Myeloproliferative neoplasm
Myeloproliferative neoplasms
Myeloproliferative syndrome
Myhre syndrome
Myleoid malignancy predisposition
Myocardial Infarction
Myocardial infarction
Myocardial infarction 1
Myocardial infarction increased risk
Myocardial infarction lower risk association
Myocardial infarction premature
Myocardial infarction protection
Myocardial infarction protection association
Myocardial infarction reduced risk
Myocardial infarction susceptibility association
Myocarditis acute
Myocerebrohepatopathy spectrum disorders
Myoclonic astatic epilepsy
Myoclonic atonic epilepsy
Myoclonic dystonia
Myoclonic dystonia 11
Myoclonic dystonia 26
Myoclonic encephalopathy
Myoclonic epilepsy
Myoclonic epilepsy benign infantile
Myoclonic epilepsy borderline
Myoclonic epilepsy early onset
Myoclonic epilepsy focal infantile
Myoclonic epilepsy infantile
Myoclonic epilepsy neonatal
Myoclonic epilepsy of Lafora
Myoclonic epilepsy of Lafora modifier of
Myoclonic epilepsy progressive
Myoclonic epilepsy progressive early onset
Myoclonic epilepsy refractory and developmental delay
Myoclonic epilepsy, progressive, X-linked
Myoclonic seizures and hypotonia
Myoclonic-atonic epilepsy
Myoclonus
Myoclonus dystonia
Myoclonus dystonia autosomal dominant
Myoclonus dystonia late onset
Myoclonus dystonia syndrome
Myoclonus dystonia tremulous
Myoclonus epilepsy
Myoclonus epilepsy with declining mental status
Myoclonus isolated without seizures
Myoclonus with intellectual / developmental disability
Myoclonus, familial, 1
Myoclonus, familial, 2
Myofibrillar myopathy
Myofibrillar myopathy 1
Myofibrillar myopathy 11
Myofibrillar myopathy 2
Myofibrillar myopathy 5
Myofibrillar myopathy 6
Myofibrillar myopathy 7
Myofibrillar myopathy 8
Myofibrillar myopathy ZASP related
Myofibrillar myopathy autosomal recessive
Myofibrillar myopathy cardiomyopathy & posterior polar cataract
Myofibroblastoma
Myofibromatosis infantile
Myofibromatosis infantile complex
Myofibromatosis, infantile, 1
Myofibromatosis, infantile, 2
Myogenic tremor & myopathy
Myoglobinuria recurrent
Myokymia
Myokymia 1
Myokymia 1 with hypomagnesemia
Myopathy
Myopathy & mitochondrial DNA instability
Myopathy & posterior white matter mild signal alteration
Myopathy / muscular dystrophy
Myopathy MYH2 related
Myopathy MYH7 related
Myopathy Native American
Myopathy and encephalopathy
Myopathy and foetal akinesia
Myopathy areflexia respiratory distress and dysphagia
Myopathy asc 1 related
Myopathy autophagic vacuolar
Myopathy axial distal early onset
Myopathy calf predominant
Myopathy cardiomyopathy muscle weakness
Myopathy cataract & combined respiratory chain deficiency
Myopathy centronuclear
Myopathy centronuclear autosomal dominant
Myopathy centronuclear autosomal recessive
Myopathy congenital
Myopathy congenital progressive with scoliosis
Myopathy desmin related
Myopathy desmin related with autophagic vacuolar pathology
Myopathy dilatative
Myopathy distal
Myopathy distal 1
Myopathy distal Laing
Myopathy distal Laing like
Myopathy distal and proximal with complete ophthalmoplegia
Myopathy distal early onset
Myopathy distal with rimmed vacuoles
Myopathy due to calsequestrin and SERCA1 protein overload
Myopathy early onset
Myopathy early onset and progeria
Myopathy hypoacusis endocrine dysfunction and psychiatric symptoms
Myopathy infantile inflammatory
Myopathy lactic acidosis and developmental delay
Myopathy lactic acidosis sideroblastic anaemia syndrome
Myopathy limb girdle
Myopathy mild psychomotor retardation mild dysmorphias
Myopathy myofibrillar
Myopathy polyneuropathy & ataxia
Myopathy primary
Myopathy progressive axial with cataracts
Myopathy progressive early onset
Myopathy progressive with sarcoplasmic inclusions
Myopathy proximal with contractures
Myopathy proximal with opthalmoplegia
Myopathy pseudometabolic
Myopathy rimmed vacuolar
Myopathy scapulohumeroperoneal
Myopathy statin associated
Myopathy thin filament
Myopathy with central nuclei
Myopathy with cores
Myopathy with corona fibres muscle atrophy and craniosynostosis
Myopathy with cortical and cerebellar atrophy
Myopathy with defiency of succinate dehydrogenase & acotinase
Myopathy with early respiratory failure
Myopathy with external ophthalmoplegia
Myopathy with fibre type disproportion
Myopathy with limb girdle weakness
Myopathy with lobulated muscle fibres
Myopathy with ptosis and mild dystrophic pattern
Myopathy, actin, congenital, with cores
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, congenital, progressive, with scoliosis
Myopathy, congenital, with excess of muscle spindles
Myopathy, congenital, with structured cores and z-line abnormalities
Myopathy, congenital, with tremor
Myopathy, distal, 5
Myopathy, distal, 6, adult-onset, autosomal dominant
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Myopathy, lactic acidosis, and sideroblastic anemia 3
Myopathy, myofibrillar, 9, with early respiratory failure
Myopathy, proximal, and ophthalmoplegia
Myopathy, reducing body, X-linked, childhood-onset
Myopathy, reducing body, X-linked, early-onset, severe
Myopathy, tubular aggregate, 1
Myopathy, tubular aggregate, 2
Myopathy/Muscular dystrophy
Myopia
Myopia 2, autosomal dominant
Myopia 21, autosomal dominant
Myopia 24, autosomal dominant
Myopia 25, autosomal dominant
Myopia 26, X-linked, female-limited
Myopia 27
Myopia high grade
Myopia pathologic
Myopia, high, with cataract and vitreoretinal degeneration
Myopic anisometropia severe
Myosin storage myopathy
Myosin storage myopathy with respiratory and cardiac involvement
Myotonia
Myotonia & periodic paralysis
Myotonia Becker
Myotonia Thomsen
Myotonia and respiratory weakness
Myotonia congenita
Myotonia congenita with scoliosis
Myotonia congenita, atypical, acetazolamide-responsive
Myotonia congenita/Myotonia levior
Myotonia generalised
Myotonia levior
Myotonia neonatal onset
Myotonia non dystrophic
Myotonia potassium aggravated
Myotonia with intermittent dysphagia
Myotonic disorder
Myotonic dystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myotubular myopathy
Myotubular myopathy X linked
Ménière's disease
Müllerian aplasia
Müllerian duct abnormality and hyperandrogenism
Müllerian duct anomaly
Müllerian renal & cervicothoracic abnormalities
N acetylgalactosaminidase alpha deficiency
N acetylglutamate synthase deficiency
N linked glycosylation disorder
NAD deficiency
NAD(P)HX dehydratase deficiency
NADH cyb5R deficiency type 1
NDUFB11 related complex I deficiency
NEMO deficiency
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
NFKB1 error of immunity with immune dysregulation
NFU1 deficiency
NGLY1 deficiency
NK cell deficiency
NK-cell enteropathy
NOCARH syndrome
NOR polyagglutination
NPHP like kidney disease
NTHL1-related attenuated familial adenomatous polyposis
Nager acrofacial dysostosis
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail clubbing
Nail dystrophy
Nail patella like renal disease
Nail patella syndrome
Nail patella syndrome modifier of
Nail-patella syndrome
Nakajo Nishimura syndrome
Namaqualand hip dysplasia
Nance Horan syndrome
Nance-Horan syndrome
Nanophthalmos
Nanophthalmos 2
Nanophthalmos 4
Nanophthalmos and retinal dystrophy
Nanophthalmos hyperopia
Nanophthalmos/posterior microphthalmos
Narcolepsy 1
Narcolepsy 7
Narcolepsy early onset
Narcolepsy with cataplexy
Narrow chest
Nasal malformations & parietal foramina
Nasopharyngeal cancer
Nasopharyngeal carcinoma
Nasopharyngeal carcinoma susceptibility to
Nasopharyngeal teratoma congenital diaphragmatic hernia & Dandy Walker malformation
Nasu Hakola disease
Navajo neurohepatopathy
Naxos Carvajal syndrome
Naxos disease
Necrotizing enterocolitis
Negative shift activation
Nemaline myopathy
Nemaline myopathy 1
Nemaline myopathy 10
Nemaline myopathy 2
Nemaline myopathy 3, autosomal dominant or recessive
Nemaline myopathy 4
Nemaline myopathy 6
Nemaline myopathy 8
Nemaline myopathy 9
Nemaline myopathy and dilated cardiomyopathy
Nemaline myopathy and hypertrophic cardiomyopathy
Nemaline myopathy type 6
Neonatal Marfan syndrome
Neonatal acute respiratory distress due to SP-B deficiency
Neonatal adrenoleukodystrophy
Neonatal alloimmune thrombocytopenic purpura
Neonatal anaemia severe recurrent fevers & autoinflammation
Neonatal cyanosis
Neonatal cyanosis & anaemia
Neonatal death
Neonatal diabetes mellitus
Neonatal diabetes mellitus with congenital hypothyroidism
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal encephalopathy severe
Neonatal epilepsy late onset ataxia myoclonus & pain
Neonatal hypotonia
Neonatal infantile seizures
Neonatal infantile seizures benign familial
Neonatal insulin-dependent diabetes mellitus
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal lactic acidosis with methylmalonic aciduria
Neonatal mitochondrial leukoencephalopathy
Neonatal onset epilepsy muscular hypotonia lactic acidosis & glycine elevation
Neonatal pseudo-hydrocephalic progeroid syndrome
Neonatal respiratory distress / interstitial lung disease
Neonatal seizure disorder & epileptic encephalopathy
Neonatal seizures
Neonatal seizures Microcephaly Global developmental delay Failure to thrive Spasticity Dystonic movements
Neonatal severe primary hyperparathyroidism
Neoplasm
Neoplasm of brain
Neoplasm of ovary
Neoplasm of stomach
Neoplasm of the large intestine
Neoplasm of uterine cervix
Neoplastic disease increased risk association
Neotenic complex syndrome
Nephritis
Nephrocalcinosis
Nephrocalcinosis and chronic kidney disease
Nephrocalcinosis and hypercalcaemia
Nephrocalcinosis hypercalciuria & tetany
Nephrocalcinosis severe
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nephrolithiasis
Nephrolithiasis hypercalciuric
Nephrolithiasis like phenotype
Nephrolithiasis susceptibility caused by SLC26A1
Nephrolithiasis, X-linked recessive
Nephrolithiasis/bone demineralization
Nephrolithiasis/nephrocalcinosis chronic kidney disease and hyperoxaluria
Nephrolithiasis/nephrocalcinosis polyuria polydipsia and hypercalciuria
Nephronophthisis
Nephronophthisis & growth retardation
Nephronophthisis 1
Nephronophthisis 1 with COMA
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 13 with Caroli disease
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 2
Nephronophthisis 20
Nephronophthisis 3
Nephronophthisis 3/Renal hepatic pancreatic dysplasia
Nephronophthisis 4
Nephronophthisis 7
Nephronophthisis 9
Nephronophthisis and retinal degeneration
Nephronophthisis and retinal dystrophy
Nephronophthisis infantile
Nephronophthisis juvenile
Nephronophthisis late onset
Nephronophthisis related ciliopathy
Nephronophthisis with liver fibrosis
Nephronophthisis-like nephropathy 1
Nephropathic cystinosis
Nephropathy
Nephropathy in type 2 diabetes
Nephropathy interstitial
Nephropathy reduced risk
Nephrotic proteinuria
Nephrotic proteinuria with focal segmental glomerulosclerosis and tubulointerstitial lesions
Nephrotic range proteinuria
Nephrotic syndrome
Nephrotic syndrome 14
Nephrotic syndrome 15
Nephrotic syndrome 16
Nephrotic syndrome 3 early onset
Nephrotic syndrome 4
Nephrotic syndrome 7
Nephrotic syndrome and interstitial lung disease
Nephrotic syndrome and renal amyloidosis
Nephrotic syndrome cataract deafness and enterocolitis
Nephrotic syndrome childhood onset
Nephrotic syndrome congenital
Nephrotic syndrome early onset
Nephrotic syndrome interstitial lung disease & skin fragility
Nephrotic syndrome late onset
Nephrotic syndrome modifier of
Nephrotic syndrome monogenic
Nephrotic syndrome steroid resistant
Nephrotic syndrome steroid resistant with adrenal insufficiency
Nephrotic syndrome steroid sensitive
Nephrotic syndrome tubular ectasia and haematuria
Nephrotic syndrome type 14
Nephrotic syndrome with primary adrenal insufficiency
Nephrotic syndrome with sensorineural deafness
Nephrotic syndrome, type 10
Nephrotic syndrome, type 11
Nephrotic syndrome, type 12
Nephrotic syndrome, type 13
Nephrotic syndrome, type 17
Nephrotic syndrome, type 18
Nephrotic syndrome, type 2
Nephrotic syndrome, type 20
Nephrotic syndrome, type 22
Nephrotic syndrome, type 23
Nephrotic syndrome, type 24
Nephrotic syndrome, type 3
Nephrotic syndrome, type 4
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Nervous system tumours
Nestor-Guillermo progeria syndrome
Netherton syndrome
Neu Laxova syndrome
Neu-Laxova syndrome 1
Neu-Laxova syndrome 2
Neural and nonneural tumours
Neural tube defect
Neural tube defect increased risk
Neural tube defects
Neural tube defects increased risk
Neural tube defects myelomeningocele
Neuralgia trigeminal
Neuro immuno skeletal dysplasia syndrome
Neuro regression
Neuro regression rapid onset
Neuroaxonal dystrophy
Neuroaxonal dystrophy atypical late onset
Neuroaxonal dystrophy infantile
Neuroblastoma
Neuroblastoma & nephroblastoma
Neuroblastoma amplified sequence deficiency
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptibility to, 3
Neurocirculatory asthenia
Neurocutaneous syndrome autosomal recessive
Neurodegeneration
Neurodegeneration & cerebellar atrophy
Neurodegeneration X linked
Neurodegeneration beta propeller protein associated
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration fatty acid hydroxylase associated
Neurodegeneration infantile & 3 methylglutaconic aciduria
Neurodegeneration mitochondrial membrane protein associated
Neurodegeneration progressive early onset
Neurodegeneration progressive infantile
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation 1, atypical
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 6
Neurodegeneration with brain iron accumulation 7
Neurodegeneration with brain iron accumulation 8
Neurodegeneration with developmental delay ataxia and axonal neuropathy
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Neurodegeneration, childhood-onset, with cerebellar atrophy
Neurodegeneration, infantile-onset, biotin-responsive
Neurodegenerative brainstem disorder
Neurodegenerative disease
Neurodegenerative disorder
Neurodegenerative disorder infantile onset
Neurodegenerative encephalopathy early onset
Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy
Neurodegenerative syndrome
Neurodegenrative disease with blindness
Neurodegenrative disease with epilepsy and intracranial calcification
Neurodegeration developmental delay failure to thrive quadriplegia truncal hypotonia optic atrophy leukoencephalopathy
Neurodevelopmental abnormalities & dysmorphic features
Neurodevelopmental abnormalities & visual impairment
Neurodevelopmental abnormality
Neurodevelopmental and cardiac anomalies leading to perinatal lethality
Neurodevelopmental delay
Neurodevelopmental delay & distinctive appearance
Neurodevelopmental delay & hypotonia
Neurodevelopmental delay & structural brain abnormalities
Neurodevelopmental delay and autism spectrum disorder
Neurodevelopmental delay and hypotonia
Neurodevelopmental delay and hypotonia of the extremities with horizontal and vertical nystagmus
Neurodevelopmental delay and learning disability
Neurodevelopmental delay febrile illness induced encephalopathy and rhabdomyolysis
Neurodevelopmental delay hypotonia and generalized epilepsy
Neurodevelopmental delay hypotonia strabismus seizures and pectus excavatum
Neurodevelopmental delay infantile spasms and focal seizures
Neurodevelopmental disability muscular hypotonia feeding abnormalities recurrent fever and infantile spasms
Neurodevelopmental disease
Neurodevelopmental disease severe with seizures
Neurodevelopmental disorder
Neurodevelopmental disorder and cutaneous mastocytosis
Neurodevelopmental disorder and epilepsy
Neurodevelopmental disorder and language delay with or without structural brain abnormalities
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Neurodevelopmental disorder epilepsy related
Neurodevelopmental disorder increased risk of
Neurodevelopmental disorder severe
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Neurodevelopmental disorder with brain and heart anomalies
Neurodevelopmental disorder with brain anomalies
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental disorder with central and peripheral motor dysfunction
Neurodevelopmental disorder with central hypotonia and dysmorphic facies
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
Neurodevelopmental disorder with congenital heart defects
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with hearing loss
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with language impairment and behavioral abnormalities
Neurodevelopmental disorder with microcephaly and dysmorphic facies
Neurodevelopmental disorder with microcephaly and structural brain anomalies
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Neurodevelopmental disorder with or without early-onset generalized epilepsy
Neurodevelopmental disorder with or without seizures and gait abnormalities
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
Neurodevelopmental disorder with poor language and loss of hand skills
Neurodevelopmental disorder with progressive microcephaly spasticity and brain anomalies
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
Neurodevelopmental disorder with seizures and brain atrophy
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
Neurodevelopmental disorder with severe motor impairment and absent language
Neurodevelopmental disorder with spasticity and poor growth
Neurodevelopmental disorder with speech impairment and dysmorphic facies
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
Neurodevelopmental disorder with visual defects and brain anomalies
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Neurodevelopmental disorders and macrocephaly with autism
Neurodevelopmental disorders and macrocephaly without autism
Neurodevelopmental disorders including intellectual disability
Neurodevelopmental epileptic encephalopathy
Neurodevelopmental syndrome with macrocephaly impaired speech and language
Neurodevelopmental, jaw, eye, and digital syndrome
Neuroendocrine cell hyperplasia of infancy
Neuroendocrine tumours & cyclic Cushing's syndrome
Neurofacioskeletal syndrome with or without renal agenesis
Neuroferritinopathy
Neurofibroma
Neurofibroma plexiform
Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 1 and breast cancer
Neurofibromatosis 1 like syndrome
Neurofibromatosis 1 with glioma
Neurofibromatosis 2
Neurofibromatosis Noonan syndrome
Neurofibromatosis spinal
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis, type 2
Neurofibromatosis-Noonan syndrome
Neurofibrosarcoma
Neurogenic scapuloperoneal syndrome, Kaeser type
Neurohypophyseal diabetes insipidus
Neuroinflammatory disease
Neurologic & psychiatric disorders
Neurologic syndrome
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Neurological & musculoskeletal disorders
Neurological disease
Neurological disorder
Neurological disorder severe
Neurological dysfunction HPRT1 related
Neurological features in Wilson disease increased risk
Neurological phenotype and visual impairment late onset
Neurological symptoms
Neurological syndrome
Neurological/concussion related symptoms following trivial head trauma
Neurology paediatric
Neurology paediatric X linked
Neurometabolic disorder
Neurometabolic syndrome
Neuromuscular disease
Neuromuscular disease and ocular or auditory anomalies with or without seizures
Neuromuscular disorder
Neuromuscular disorder & eplieptic encephalopathy
Neuromyelitis optica
Neuromyotonia muscle hypertrophy and skeletal deformities.
Neuronal affection
Neuronal ceroid lipofuscinoses juvenile
Neuronal ceroid lipofuscinoses late infantile
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 13
Neuronal ceroid lipofuscinosis 14/progressive myoclonic epilepsy
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 4A autosomal recessive
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronal ceroid lipofuscinosis adult
Neuronal ceroid lipofuscinosis adult onset
Neuronal ceroid lipofuscinosis early childhood
Neuronal ceroid lipofuscinosis infantile
Neuronal ceroid lipofuscinosis juvenile
Neuronal ceroid lipofuscinosis late infantile
Neuronal migration defect
Neuronopathy, distal hereditary motor, type 2A
Neuronopathy, distal hereditary motor, type 2B
Neuronopathy, distal hereditary motor, type 2D
Neuronopathy, distal hereditary motor, type 5A
Neuronopathy, distal hereditary motor, type 5B
Neuronopathy, distal hereditary motor, type 7B
Neuronopathy, distal hereditary motor, type 9
Neuroocular syndrome
Neurooculocardiogenitourinary syndrome
Neuropathic pain in diabetic peripheral neuropathy
Neuropathology and cognition in Alzheimer disease association
Neuropathy
Neuropathy & deafness
Neuropathy and bilateral striatal necrosis
Neuropathy axonal
Neuropathy congenital hypomyelinating
Neuropathy distal hereditary motor
Neuropathy distal hereditary motor / amyotrophic lateral sclerosis
Neuropathy distal hereditary motor type II
Neuropathy distal hereditary motor type VIIB
Neuropathy early onset
Neuropathy exercise intolerance obesity & short stature
Neuropathy hereditary
Neuropathy hereditary motor and sensory
Neuropathy hereditary sensory type I
Neuropathy hereditary sensory type II
Neuropathy infantile onset
Neuropathy liability to pressure palsies
Neuropathy motor / sensory intermediate
Neuropathy motor and sensory type 2
Neuropathy motor and sensory/Neuropathy sensory and autonomic type 1
Neuropathy, congenital hypomyelinating, 2
Neuropathy, congenital hypomyelinating, 3
Neuropathy, hereditary motor and sensory, type 6B
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
Neuropathy, hereditary sensory and autonomic, type 1A
Neuropathy, hereditary sensory and autonomic, type 1C
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type IA, severe
Neuropathy, hereditary sensory, type 1F
Neuropathy, hereditary sensory, type 2C
Neurosensory deafness
Neutral 1 amino acid transport defect
Neutral Lipid Storage Disease
Neutral lipid storage disease with myopathy
Neutral lipid storage disease with myopathy and dropped head syndrome
Neutral lipid storage myopathy
Neutropaenia
Neutropaenia and moderate macrocytosis
Neutropaenia congenital
Neutropaenia congenital and intermittent thrombocytopaenia
Neutropaenia cyclic
Neutropaenia neutrophil dysfunction bone marrow fibrosis & nephromegaly
Neutropaenia reticulin fibrosis of bone marrow and extramedullary haematopoiesis
Neutropaenia severe congenital
Neutropaenia severe congenital X linked
Neutropaenia severe congenital with neurological symptoms
Neutropaenia thrombasthenia & myelofibrosis of infancy
Neutropaenia with cardiac and urogenital malformations
Neutropaenia with myelofibrosis
Neutropaenia with neurological impairment
Neutropenia
Neutropenia, severe congenital, 1, autosomal dominant
Neutropenia, severe congenital, 2, autosomal dominant
Neutropenia, severe congenital, 8, autosomal dominant
Neutrophil dysfunction and recurrent infection
Neutrophil immunodeficiency syndrome
Neutrophil specific granule deficiency
Neutrophilic dermatosis
Neutrophilic dermatosis acute febrile
Nevoid basal cell carcinoma syndrome
Nevus comedonicus syndrome
Nevus of Ota with choroidal melanoma
Nicolaides Baraitser syndrome
Nicolaides-Baraitser syndrome
Nicotine dependence
Nicotine dependence reduced risk
Nicotine dependence risk
Niemann Pick disease
Niemann Pick disease type A
Niemann Pick disease type B
Niemann Pick disease type C
Niemann Pick disease type C prenatal onset
Niemann Pick disease type C with early onset ataxia
Niemann Pick disease type C2
Niemann Pick disease type D
Niemann Pick type II disease
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type C
Niemann-Pick disease, type C1
Niemann-Pick disease, type C1, adult form
Niemann-Pick disease, type C1, juvenile form
Niemann-Pick disease, type C2
Niemann-pick disease, intermediate, protracted neurovisceral
Night blindness
Night blindness autosomal recessive
Night blindness congenital
Night blindness congenital stationary
Night blindness congenital stationary 1
Night blindness congenital stationary 2
Night blindness congenital stationary incomplete
Night blindness visual field peripheral restriction & decreased vision
Nightblindness associated transient tonic downgaze
Nightblindness congenital stationary
Nightblindness stationary
Nijmegen breakage syndrome-like disorder
No activity
No exercise induced glycerol increase association
Nob syndromic cleft lip and/or palate
Nocturnal frontal lobe epilepsy
Nocturnal frontal lobe epilepsy autosomal dominant
Nocturnal frontal lobe epilepsy with paroxysmal arousals
Nocturnal oxyhaemoglobin saturation
Nodal rhythm
Noise induced hearing loss susceptibility to association
Non Hodgkin lymphoma
Non Hodgkin lymphoma increased risk
Non alcoholic fatty liver disease
Non alcoholic fatty liver disease and dyslipidaemia
Non alcoholic fatty liver disease protection against
Non cirrhotic portal hypertension
Non classic 21 hydroxylase deficiency
Non classical 11 beta hydroxylase deficiency
Non fatal non progressive encephalopathy
Non functional channel
Non functional variant
Non immune hydrops fetalis
Non immune hydrops hypotonia encephalopathy and liver failure
Non muscle invasive bladder cancer increased recurrence
Non obstructive azoospermia
Non secretor phenotype
Non small cell lung cancer
Non small cell lung cancer modifier of
Non small cell lung cancer susceptibility to
Non specific disorder of under masculinzation
Non syndromic autosomal recessive deafness
Non syndromic cleft lip/palate
Non syndromic cleft palate
Non syndromic hearing loss
Non syndromic retinal degeneration
Non syndromic situs inversus & developmental dyslexia
Non syndromic trigonocephaly
Non-Hodgkin lymphoma
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Non-immune hydrops fetalis
Non-ketotic hyperglycinemia
Non-obstructive azoospermia
Non-small cell lung carcinoma
Non-syndromic X-linked intellectual disability
Non-syndromic intellectual disability
Non-syndromic oligodontia
Nonaka myopathy
Nonalcoholic fatty liver disease
Nonalcoholic fatty liver disease increased risk
Noncompaction left ventricular
Noncompaction left ventricular 4/Cardiomyopathy dilated 1R/Cardiomyopathy hypertrophic 11/Atrial septal defect 5
Noncompaction left ventricular isolated
Noncompaction of ventricular myocardium
Nonepileptic neurodevelopmental disorder
Nonprogressive cerebellar atxia with intellectual disability
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Nonsyndromic Deafness
Nonsyndromic Oculocutaneous Albinism
Nonsyndromic aggressive periodontitis
Nonsyndromic cleft lip and/or cleft palate
Nonsyndromic congenital nail disorder 1
Nonsyndromic congenital nail disorder 8
Nonsyndromic congenital retinal nonattachment (NCRNA)
Nonsyndromic deafness
Nonsyndromic genetic hearing loss
Nonsyndromic hearing loss X linked
Nonsyndromic hearing loss autosomal recessive
Nonsyndromic orofacial clefts risk
Noonan like face cardio renal alterations shagreen patch & cafe au lait spots
Noonan like syndrome
Noonan like syndrome with loose anagen hair
Noonan syndrome
Noonan syndrome & neurofibromatosis 1
Noonan syndrome / cardio facio cutaneous syndrome
Noonan syndrome 1
Noonan syndrome 10
Noonan syndrome 11
Noonan syndrome 12
Noonan syndrome 13
Noonan syndrome 14
Noonan syndrome 2
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 5
Noonan syndrome 6
Noonan syndrome 7
Noonan syndrome 8
Noonan syndrome 9
Noonan syndrome and Noonan-related syndrome
Noonan syndrome and craniosynostosis
Noonan syndrome atypical
Noonan syndrome like
Noonan syndrome postnatal
Noonan syndrome prenatal
Noonan syndrome with bile duct dilatation
Noonan syndrome with cardiac hypertrophy
Noonan syndrome with juvenile myelomonocytic leukaemia
Noonan syndrome with multifocal ductal breast cancer
Noonan syndrome with multiple giant cell lesions
Noonan syndrome with multiple lentigines
Noonan syndrome with neuroblastoma
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome-like disorder with loose anagen hair 2
Noonan syndrome/Cardiofaciocutaneous syndrome/Leukemia acute myelogenous
Noonan syndrome/RASopathy
Noonan-like syndrome
Norepinephrine deficiency
Normal early development acute infantile neurological deterioration optic atrophy and mild cognitive impairment
Normocytic anaemia and asthenia
Normokalaemic periodic paralysis
Normokalaemic periodic paralysis with involuntary movements and generalised epilepsy
Normokalemic periodic paralysis, potassium-sensitive
Normophosphatemic familial tumoral calcinosis
Normosmic congenital hypogonadotropic hypogonadism
Norrie Disease
Norrie disease
North American Indian childhood cirrhosis
Northern epilepsy
Norum disease
Nuclear cataracts with microphthalmia
Nuclear envelopathy with progeroid features
Nuclear punctate cataract
Nucleoside phosphorylase deficiency
Null allele
Nyctalopia decreased peripheral vision & history of plaquenil
Nystagmus
Nystagmus 1 X linked
Nystagmus 1, congenital, X-linked
Nystagmus 6, congenital, X-linked
Nystagmus and late onset ataxia
Nystagmus autosomal dominant foveal hypoplasia & presenile cataract
Nystagmus idiopathic
Nystagmus infantile X linked
Nystagmus infantile idiopathic
Nystagmus infantile periodic alternating
Nystagmus microcephaly dystonia and hypomyelination
Nystagmus sudden opistotonic posturing developmental delay and marked choreiform movements with hypotonia
Nystagmus with cataract & iris anomalies
Néstor Guillermo progeria syndrome
O'Donnell-Luria-Rodan syndrome
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
OKT4 epitope deficiency
OL EDA ID syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOOTOHEPATOENTERIC SYNDROME
OTULIN related autoinflammatory syndrome
OVARIAN CANCER, EPITHELIAL, SOMATIC
OXPHOS complex I and IV deficiency
OXPHOS deficiency
OXPHOS deficiency combined
Obesity
Obesity & diabetes type 2 early onset
Obesity & insulin resistance
Obesity & intellectual disability
Obesity and developmental delay
Obesity and diabetes reduced risk association
Obesity and impaired prohormone processing
Obesity and insulin resistance
Obesity autosomal dominant
Obesity childhood
Obesity childhood onset
Obesity decreased risk
Obesity delayed onset
Obesity due to congenital leptin deficiency
Obesity due to leptin receptor gene deficiency
Obesity due to prohormone convertase I deficiency
Obesity early onset
Obesity early onset & metabolic syndrome
Obesity early onset severe
Obesity extreme
Obesity hyperphagia and developmental delay
Obesity insulin resistance fatty liver & short stature
Obesity late onset
Obesity male
Obesity modifier of risk
Obesity morbid
Obesity morbid susceptibility to
Obesity reduced risk
Obesity related traits
Obesity severe
Obesity severe early onset
Obesity severe with diabetes
Obesity susceptibility
Obesity susceptibility to
Obesity with Prader Willi syndrome
Obesity with polycystic ovary syndrome
Obesity, autosomal dominant
Obesity, hyperphagia, and developmental delay
Obesity, mild, early-onset
Obesity, severe, and type II diabetes
Oblique facial clefting
Obliterative portal venopathy
Obsessive compulsive disorder
Obsessive compulsive disorder susceptibility association
Obsessive compulsive disorder with learning disability
Obsessive-compulsive behavior
Obstructive azoospermia
Obstructive lung disease
Obstructive sleep apnea
Occipital horn syndrome
Occlusive cerebrovascular disease
Ocular & skeletal abnormalities
Ocular albinism
Ocular albinism X linked
Ocular albinism, type I
Ocular anomalies
Ocular anterior segment anomaly
Ocular anterior segment disease
Ocular coloboma
Ocular coloboma microphthalmia and cataract
Ocular cystinosis
Ocular development anomalies
Ocular disorders
Ocular dysmotility
Ocular facio bulbar limb girdle muscle weakness and exercise intolerance
Ocular hypertension
Ocular malformation
Ocular malformations
Ocular melanoma
Ocular myopathy
Ocular telangiectasia
Oculo auricular syndrome
Oculo auriculo vertebral spectrum
Oculo auriculo vertebral spectrum/Goldenhar syndrome/Hemifacial microsomia
Oculoauricular syndrome
Oculoauriculofrontonasal syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculocutaneous albinism type 6
Oculocutaneous albinism type 7
Oculocutaneous albinism type 8
Oculodentodigital dysplasia
Oculodentodigital dysplasia with massive brain calcification
Oculodentodigital dysplasia with primary lymphoedema
Oculodentodigital dysplasia with spastic paraplegia
Oculodentodigital dysplasia, autosomal recessive
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Oculopharyngeal muscular dystrophy
Odonto onycho dermal dysplasia
Odonto-onycho-dermal dysplasia
Odontogenic keratocysts
Odontohypophosphatasia
Odour perception
Oedema prenatal generalised
Oesophageal atresia and hemivertebrae
Oesophageal atresia and patent foramen ovale
Oesophageal atresia and tracheoesophageal fistula
Oesophageal cancer
Oesophageal cancer reduced risk
Oesophageal cancer risk
Oesophageal carcinoma
Oesophageal squamous cell carcinoma
Oesophageal squamous cell carcinoma increased risk
Oesophageal squamous cell carcinoma reduced risk
Oesophageal squamous cell carcinoma reduced risk in non smokers
Oesophageal tumours
Oestrogen receptor negative tumours
Oestrogen resistance
Ogden syndrome
Oguchi disease
Oguchi disease-2
Ohdo blepharophimosis syndrome
Ohdo blepharophimosis syndrome SBBYS type
Ohdo syndrome
Ohdo syndrome features
Ohtahara / West syndrome
Ohtahara syndrome
Ohtahara syndrome early infantile
Ohtahara syndrome with hypertonia & microcephaly
Ohtahara/West syndrome
Okur Chung neurodevelopmental syndrome
Okur-Chung neurodevelopmental syndrome
Olfactory receptor deficiency
Olfactory sensitivity
Oligo astheno teratozoospermia
Oligo asthenozoospermia
Oligoasthenoteratozoospermia
Oligoasthenoteratozoospermia syndrome
Oligocone trichromacy
Oligodontia
Oligodontia autosomal dominant
Oligodontia molar
Oligodontia non syndromic
Oligohydramnios short long bones and echogenic kidneys
Oligospermia
Oligospermia reduced risk
Oligosynaptic infertility
Oligozoospermia
Oligozoospermia asthenozoospermia and teratozoospermia
Oliver McFarlane / Laurence Moon syndrome
Oliver McFarlane syndrome
Olivopontocerebellar hypoplasia
Ollier disease
Olmsted like syndrome
Olmsted syndrome
Olmsted syndrome & erythromelalgia
Olmsted syndrome 1
Olmsted syndrome X linked
Olmsted syndrome atypical
Olmsted syndrome, X-linked
Omenn syndrome
Omenn syndrome with aniridia
Omodysplasia autosomal dominant
Oncocytic thyroid carcinoma
Oocyte maturation arrest
Oocyte maturation defect 10
Oocyte maturation defect 2
Oocyte maturation defect 3
Oocyte maturation defect 4
Oocyte maturation defect 5
Oocyte maturation defect 6
Oocyte maturation defect 7
Oocyte maturation defect 8
Oocyte maturation defect 9
Oocyte meiotic I arrest
Oocyte morphologic abnormality
Ophthalmologic disorder
Ophthalmoplegia and malignant hyperthermia
Opioid dependence
Opioid dependence protection against in African Americans
Opitz G/BBB syndrome
Opitz Kaveggia syndrome
Opsismodysplasia
Opsoclonus myoclonus ataxia like syndrome
Optic atrophy
Optic atrophy & auditory neuropathy
Optic atrophy & cerebellar atrophy
Optic atrophy & deafness
Optic atrophy & limb spasticity with no cerebellar atrophy or axonal neuropathy
Optic atrophy & sensorineural hearing loss
Optic atrophy 1
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Optic atrophy 11
Optic atrophy 12
Optic atrophy 13 with retinal and foveal abnormalities
Optic atrophy 3
Optic atrophy 5
Optic atrophy 9
Optic atrophy acute & late onset
Optic atrophy and cataract
Optic atrophy and deafness
Optic atrophy and obesity
Optic atrophy ataxia & neuropathy
Optic atrophy ataxia & spasticity
Optic atrophy ataxia myopathy
Optic atrophy autosomal dominant
Optic atrophy autosomal dominant with hearing impairment
Optic atrophy axonal neuropathy and ataxia
Optic atrophy cataract & peripheral neuropathy
Optic atrophy cataracts lipodystrophy/lipoatrophy and peripheral neuropathy
Optic atrophy childhood onset dystonia and abnormal basal ganglia signalling
Optic atrophy chorea cerebellar ataxia & dystonia
Optic atrophy deafness & ataxia
Optic atrophy diabetes & ataxia
Optic atrophy dominant
Optic atrophy early onset
Optic atrophy nonsyndromic
Optic atrophy plus
Optic atrophy plus syndrome
Optic atrophy recurrent myalgia with progressive myopathy & axonal polyneuropathy
Optic atrophy sensorimotor neuropathy & cataract
Optic atrophy with intellectual disability
Optic atrophy with mild intellectual disability
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Optic atrophy with retinal degeneration
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic disc anomalies & macular atrophy
Optic fissure closure defect
Optic nerve abnormalities
Optic nerve aplasia, bilateral
Optic nerve edema-splenomegaly syndrome
Optic nerve hypoplasia
Optic nerve hypoplasia and abnormalities of the central nervous system
Optic nerve hypoplasia anterior pituitary hypoplasia & growth hormone deficiency
Optic nerve hypoplasia foveal hypoplasia and vascular abnormalities
Optic nerve malformations
Optic neuropathy
Optic neuropathy autosomal recessive
Optic neuropathy early onset
Oral and maxillofacial osteodysplasia
Oral anticoagulant resistance
Oral anticoagulants resistance
Oral cancer
Oral cancer in light smokers
Oral facial digital / Joubert syndrome
Oral facial digital syndrome
Oral facial digital syndrome I
Oral facial digital syndrome I / Simpson Golabi Behmel syndrome 2
Oral facial digital syndrome II
Oral facial digital syndrome VI
Oral facial digital syndrome VI / Bardet Biedl syndrome
Oral squamous cell carcinoma
Oral white sponge nevus
Orbicularis oris defect
Orbital venous malformation
Organ involvement in PXE
Organic acidaemia
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency late onset
Oro Oto Cardiac syndrome
Orofacial cleft
Orofacial cleft 11
Orofacial cleft 5
Orofacial cleft 6, susceptibility to
Orofacial cleft 8
Orofacial clefting
Orofacial clefting & Popliteal pterygium syndrome
Orofacial dysmorphism
Orofacial granulomatosis
Orofacial-digital syndrome IV
Orofaciodigital syndrome 16
Orofaciodigital syndrome I
Orofaciodigital syndrome V
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 6
Orolaryngeal carcinoma risk
Oromandibular-limb hypogenesis spectrum
Oropharyngeal cancer syndrome
Orotic aciduria
Orotic aciduria mild
Oroticaciduria 1
Orthostatic hypotension
Orthostatic hypotension 2
Orthostatic intolerance and tachycardia
Ossification of posterior longitudinal ligament
Ossification of the posterior longitudinal ligament of the spine predisposition to
Osteoarthritis
Osteoarthritis early onset
Osteoarthritis early progressive with spondyloepiphyseal dysplasia
Osteoarthritis in males
Osteoarthritis metatarsophalangeal
Osteoarthritis of the hip increased risk
Osteoarthritis reduced risk
Osteoarthritis susceptibility
Osteoarthropathy hypertrophic
Osteochondritis dissecans dominant familial
Osteochondrodysplasia
Osteochondrodysplasia complex lethal
Osteochondrodysplasia lethal Piepkorn type
Osteochondroma
Osteocraniostenosis
Osteogenesis imperfecta
Osteogenesis imperfecta / Bruck syndrome
Osteogenesis imperfecta I
Osteogenesis imperfecta I & valvular heart disease
Osteogenesis imperfecta I/IV
Osteogenesis imperfecta IA
Osteogenesis imperfecta II
Osteogenesis imperfecta II/III
Osteogenesis imperfecta IIA
Osteogenesis imperfecta IIC
Osteogenesis imperfecta III
Osteogenesis imperfecta III modifier of
Osteogenesis imperfecta III/IV
Osteogenesis imperfecta IV
Osteogenesis imperfecta IX
Osteogenesis imperfecta XI
Osteogenesis imperfecta XIII
Osteogenesis imperfecta autosomal dominant
Osteogenesis imperfecta autosomal recessive
Osteogenesis imperfecta autosomal recessive with bone fragility & hearing impairment
Osteogenesis imperfecta high bone mass
Osteogenesis imperfecta recessive
Osteogenesis imperfecta severe
Osteogenesis imperfecta type 1, mild
Osteogenesis imperfecta type 10
Osteogenesis imperfecta type 11
Osteogenesis imperfecta type 12
Osteogenesis imperfecta type 13
Osteogenesis imperfecta type 15
Osteogenesis imperfecta type 16
Osteogenesis imperfecta type 17
Osteogenesis imperfecta type 2, thin-bone
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 6
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 9
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta type X
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, type 18
Osteogenesis imperfecta, type 19
Osteogenesis imperfecta, type 21
Osteogenesis imperfecta, type III/IV
Osteogenesis imperfecta/Ehlers Danlos syndrome
Osteogenesis imperfecta/Ehlers Danlos syndrome with brachydactyly and dentinogenesis imperfecta
Osteogenesis imperfecta/Grant syndrome
Osteoglophonic dysplasia
Osteolysis idiopathic Saudi type
Osteomalacia hypophosphataemic
Osteopaenia with arterial rupture
Osteopaenia with focal osteosclerosis
Osteopathia striata with cranial sclerosis
Osteopenia
Osteopetrosis
Osteopetrosis RANK dependent autosomal recessive
Osteopetrosis atypical
Osteopetrosis autosomal dominant Type 2
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive
Osteopetrosis autosomal recessive 8
Osteopetrosis autosomal recessive intermediate
Osteopetrosis benign autosomal dominant
Osteopetrosis craniosynostosis and Chiari malformation type I
Osteopetrosis infantile autosomal recessive
Osteopetrosis infantile malignant
Osteopetrosis intermediate and platyspondyly
Osteopetrosis with distal RTA
Osteopetrosis with renal tubular acidosis
Osteopetrosis, autosomal dominant 3
Osteoporosis
Osteoporosis & hyperlipidaemia
Osteoporosis X linked with fractures
Osteoporosis early onset
Osteoporosis juvenile
Osteoporosis primary
Osteoporosis pseudoglioma syndrome
Osteoporosis with hypophosphataemia
Osteoporosis with pseudoglioma
Osteoporotic fractures
Osteosarcoma
Osteosclerosis
Osteosclerotic bone dysplasia lethal
Osteosclerotic bone dysplasia non lethal
Otitis media susceptibility to
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Otofaciocervical syndrome
Otofaciocervical syndrome 2
Otopalatodigital syndrome
Otopalatodigital syndrome 1
Otopalatodigital syndrome 2
Otopalatodigital syndrome spectrum disorder
Otosclerosis
Ovarian Sertoli Leydig tumour & multinodular goitre
Ovarian and endometrial cancer
Ovarian and uterine cancer
Ovarian cancer
Ovarian cancer epithelial
Ovarian cancer epithelial increased risk
Ovarian cancer epithelial reduced risk
Ovarian cancer increased risk
Ovarian cancer increased risk in BRCA1 carriers association
Ovarian cancer risk
Ovarian cancer susceptibility to
Ovarian carcinoma
Ovarian dysgenesis 1
Ovarian dysgenesis 2
Ovarian dysgenesis 6
Ovarian dysgenesis 8
Ovarian endometreosis
Ovarian epithelial tumours early onset
Ovarian failure
Ovarian follicle number
Ovarian hyperstimulation syndrome
Ovarian insufficiency
Ovarian insufficiency primary
Ovarian mucinous cystadenoma
Ovarian serous cystadenocarcinoma
Ovarioleukodystrophy
Overgrowth
Overgrowth & Loeys Dietz syndrome
Overgrowth dysmorphism and learning disability
Overgrowth intellectual disability & facial dysmorphism
Overgrowth macrocephaly and intellectual disability
Overgrowth macrocephaly obesity facial features carpal ossification & speech delay
Overgrowth syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Overgrowth syndrome with intellectual disability
Overgrowth syndrome with intellectual disability & dysmorphic features
Overgrowth syndrome with neurologic deterioration
Overhydrated hereditary stomatocytosis
Overhydrated stomatocytes with haemolysis
Overweight and developmental delay
Ovotesticular disorder of sex development
Ovotesticular/testicular disorder of sex development
Oxidative phophorylation deficiency
Oxidative stress susceptibility to
Oxidised LDL levels
P glycoprotein deficiency
P450scc deficiency
PAF acetylhydrolase deficiency
PAICS deficiency
PAPA syndrome
PAPASH syndrome
PARKINSONISM WITH POLYNEUROPATHY
PASH syndrome
PAX2 related disorder
PAX8 variant
PCDH19 related epilepsy
PCWH syndrome
PDA Failure to thrive Microcephaly Fine gross delay Speech delay dystonia seizures GTC spasticity O2 dependent one still birth
PDGFRB activating spectrum disorder
PDHA1 related disorder
PEHO like syndrome
PEHO syndrome
PEPCK deficiency mitochondrial
PERCHING syndrome
PFAPA syndrome
PGM1-CDG
PHARC syndrome
PHGDH deficiency
PIGA deficiency
PIGO deficiency
PIK3CA related overgrowth spectrum
PIMT deficiency
PLA2G6 associated neurodegeneration
PM exposure related DNA damage
PMM2-CDG
PNKP deficiency
PNPO deficiency
POLD deficiency
POLG deficiency
POLG related disorder
POLG-Related Spectrum Disorders
POR deficiency
PPARG-related familial partial lipodystrophy
PR interval
PRKAG2 syndrome
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
PRPH2 associated macular dystrophy modifier
PRPH2-Related Disorders
PSAT deficiency
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
PTEN hamartoma tumor syndrome
PULMONARY ALVEOLAR MICROLITHIASIS
PURA syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PYCR1 deficiency
PYCR1-related de Barsy syndrome
Pachydermoperiostosis
Pachygyria
Pachygyria bilateral regional
Pachyonychia congenita
Pachyonychia congenita 1
Pachyonychia congenita 2
Pachyonychia congenita 3
Pachyonychia congenita 4
Pachyonychia congenita delayed onset
Paclitaxel toxicity reduced assocation
Pacreatic cancer clinical outcome
Paediatric cataract
Paediatric cataract and psychomotor retardation
Paediatric cataract with nystagmus
Paediatric dilated cardiomyopathy
Paediatric movement disorder
Paediatric nuclear cataract
Paediatric perinuclear cataract
Paediatric posterior polar cataract
Paediatric refractory epilepsy
Paediatric total cataract with microphthalmia
Paediatric total cataract with nystagmus
Paganini-Miozzo syndrome
Paget disease extramammary
Paget disease juvenile
Paget disease of bone
Paget disease of bone 2, early-onset
Paget disease of bone 6
Paget disease of bone and myopathy
Paget disease of bone juvenile
Paget disease of bone protection against
Pagets disease bone
Pain dysautonomia & acromesomelia
Pain insensitivity congenital
Pain insensitivity congenital with anhidrosis
Pain sensitivity sleep and/or memory disorders increased risk
Painful peripheral neuropathy
Painful peripheral neuropathy adult onset
Painful sensory axonal neuropathy
Painful small fibre neuropathy with gastroparesis
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal tremor
Pallister Hall syndrome
Palmar/plantar fibromatosis in LMNA mutation carriers
Palmoplantar keratoderma
Palmoplantar keratoderma & exuberant scalp hair
Palmoplantar keratoderma Gamborg Nielsen type
Palmoplantar keratoderma striate
Palmoplantar keratoderma with digital clubbing and hyperhidrosis
Palmoplantar keratoderma with hearing loss
Palmoplantar keratoderma, Bothnian type
Palmoplantar keratoderma, epidermolytic, with knuckle pads
Palmoplantar keratoderma, nonepidermolytic, focal 1
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Palmoplantar keratoderma-deafness syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratosis
Palmoplantar keratosis Nagashima type
Palmoplantar pustulosis
Panayiotopoulos syndrome
Pancreatic Neoplasms
Pancreatic adenocarcinoma
Pancreatic agenesis
Pancreatic agenesis 1
Pancreatic agenesis 2
Pancreatic cancer
Pancreatic cancer increased risk
Pancreatic cancer like disease
Pancreatic cancer susceptibility
Pancreatic cancer susceptibility to
Pancreatic ductal adenocarcinoma
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic lipase deficiency
Pancreatic triacylglycerol lipase deficiency
Pancreatitis
Pancreatitis acute
Pancreatitis acute recurrent
Pancreatitis alcohol related
Pancreatitis and reproductive issues
Pancreatitis autoimmune
Pancreatitis chronic
Pancreatitis diabetes and pancreatic adenocarcinoma
Pancreatitis hereditary
Pancreatitis tropical
Pancreatoblastoma
Pancytopaenia
Pancytopaenia exocrine pancreatic insufficiency and skeletal anomalies
Pancytopenia
Panhypopituitarism
Panic and agoraphobia symptom severity association
Panic disorder
Panic disorder in males
Panic disorder reduced risk
Panretinal degeneration
Pantothenate kinase associated neurodegeneration
Pantothenate kinase associated neurodegeneration atypical
Papillary renal carcinoma
Papillary renal cell carcinoma isolated type 2
Papillary renal cell carcinoma, sporadic
Papillary thyroid cancer
Papillary thyroid cancer increased risk
Papillary thyroid carcinoma
Papillary thyroid carcinoma susceptibility to
Papillomatous pedunculated sebaceous naevus
Papillon Lefevre syndrome
Papillon Lefevre syndrome/Haim Munk syndrome
Papillon-Lefèvre syndrome
Papillorenal syndrome
Papillorenal syndrome with macular abnormalities
Papulosquamous eruption
Para-Bombay phenotype
Paracoccidioidomycosis
Paradoxical heat sensation
Paraganglioma
Paraganglioma & phaeochromocytoma
Paraganglioma and phaeochromocytoma
Paraganglioma somatostatinoma polycythemia & Chiari malformation type 1
Paraganglioma/phaeochromocytoma
Paragangliomas 1
Paragangliomas 2
Paragangliomas 4
Paragangliomas 5
Paragangliomas 6
Paragangliomas 7
Paralytic poliomyelitis
Paramyotonia congenita
Paramyotonia congenita / sodium channel myotonia
Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita von Eulenburg
Paramyotonia congenita/hyperkalemic periodic paralysis
Paramyotonia congenita/myotonia congenita
Paraoxonase activity variant
Parathyroid adenoma
Parathyroid cancer
Parathyroid carcinoma
Parathyroid gland adenoma
Parathyroid hyperplasia
Parathyroid tumour
Parietal foramina
Parietal foramina 1
Parietal foramina 2
Parkinson disease
Parkinson disease & optic atrophy
Parkinson disease 17
Parkinson disease 19b, early-onset
Parkinson disease 22, autosomal dominant
Parkinson disease GBA associated modifier of
Parkinson disease and ADHD
Parkinson disease autosomal dominant
Parkinson disease autosomal dominant and polyneuropathy
Parkinson disease autosomal recessive
Parkinson disease dementia
Parkinson disease earlier onset
Parkinson disease early onset
Parkinson disease familial
Parkinson disease idiopathic
Parkinson disease in heterozygosity association
Parkinson disease increased risk
Parkinson disease late onset
Parkinson disease late onset autosomal dominant
Parkinson disease lower risk
Parkinson disease modifier of
Parkinson disease reduced risk
Parkinson disease risk
Parkinson disease sporadic
Parkinson disease sporadic reduced risk
Parkinson disease susceptibility
Parkinson disease with dementia
Parkinson disease young onset
Parkinson disease, X-linked dominant
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
Parkinson disease, late-onset
Parkinson disease/Dementia with Lewy bodies
Parkinson disease/Parkinson disease dementia
Parkinson's disease
Parkinsonian disorder infantile hypotonic
Parkinsonian pyramidal syndrome
Parkinsonian-pyramidal syndrome
Parkinsonism
Parkinsonism & amyotrophic lateral sclerosis
Parkinsonism L DOPA responsive
Parkinsonism L DOPA responsive with dementia
Parkinsonism atypical
Parkinsonism dystonia childhood onset
Parkinsonism early onset
Parkinsonism early onset & cognitive dysfunction
Parkinsonism early onset progressive external ophthalmoplegia and optic atrophy
Parkinsonism early onset with distal spinal amyotrophy cataracts and sensory neural deafness
Parkinsonism infantile
Parkinsonism infantile onset
Parkinsonism infantile onset levodopa responsive
Parkinsonism infantile with motor delay
Parkinsonism intellectual disability & catatonia
Parkinsonism juvenile
Parkinsonism juvenile autosomal recessive
Parkinsonism late onset
Parkinsonism pyramidal disturbances & oculomotor abnormalities
Parkinsonism-dystonia, infantile, 1
Parkinsonism-dystonia, infantile, 2
Parkinsons disease & iron accumulation in basal ganglia
Paroxysmal dyskinesia
Paroxysmal dyskinesia exertion induced
Paroxysmal dyskinesia exertion induced & epilepsy
Paroxysmal dyskinesia exertion induced epilepsy & migraine
Paroxysmal dyskinesia kinesigenic
Paroxysmal dyskinesia syndromic
Paroxysmal dystonia
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder / Erythermalgia primary
Paroxysmal head tremor adult onset
Paroxysmal hypnogenic dyskinesia
Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal kinesigenic dyskinesia and benign familial infantile seizures
Paroxysmal kinesigenic dyskinesia with focal epilepsy
Paroxysmal kinesigenic dyskinesia with infantile convulsions
Paroxysmal kinesigenic dyskinesia with migraine
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nonkinesigenic dyskinesia 1
Paroxysmal nonkinesiogenic dyskinesia
Paroxysmal tonic upward gaze
Paroxysmal ventricular tachycardia and myopathy
Paroxysmal weakness and encephalopathy fever induced
Partial albinism
Partial androgen insensitivity syndrome
Partial anomalous pulmonary venous return
Partial congenital absence of teeth
Partial epilepsy
Partial epilepsy atypical benign
Partial epilepsy of childhood atypical benign
Partial epilepsy with febrile seizures plus
Partial epilepsy with pericentral spikes
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Partial iodide organification defect
Partial lipodystrophy
Partial lipodystrophy & insulin resistance A
Partial lipodystrophy Dunnigan
Partial lipodystrophy atypical
Partial lipodystrophy type 2
Partial loss of function
Partial seizures & infantile spasms with intellectual / developmental disabilities
Partial seizures of infancy malignant migrating
Partial seizures with intellectual / developmental disabilities
Patellar dislocation
Patent ductus arteriosus
Patent ductus arteriosus 3
Patent ductus arteriosus isolated nonsyndromic
Pattern dystrophy
Pattern dystrophy autosomal dominant
Pattern/cone rod dystrophy
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1
Patterned macular dystrophy 2
Patterned macular dystrophy 3
Pectus excavatum
Pediatric hepatocellular carcinoma
Peeling skin syndrome type A
Pelger Huet anomaly
Pelger-Huët anomaly
Pelizaeus Merzbacher disease
Pelizaeus Merzbacher disease connatal type
Pelizaeus Merzbacher disease without peripheral neuropathy
Pelizaeus Merzbacher like disease
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease, connatal
Pelvic girdle muscle weakness
Pelvic organ prolapse
Pendred syndrome
Pendred syndrome hearing loss
Pendred syndrome/DFNB4
Penoscrotal hypospadias & hypertelorism
Penttinen syndrome autosomal dominant
Perforin deficiency
Pericardial effusion
Peridontitis
Perifoveal telangiectasia idiopathic
Perinatal mitochondrial hypertrophic cardiomyopathy
Perinatal problems & hypertrophic cardiomyopathy
Periodic fever aphthous stomatitis pharyngitis and adenopathy syndrome
Periodic fever atypical
Periodic fever autosomal dominant
Periodic fever syndrome
Periodic fever with AA amyloidosis
Periodic fever with amyloidosis
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Periodic paralysis
Periodontal disease
Periodontitis
Periodontitis aggressive
Periodontitis generalized aggressive
Periodontitis juvenile
Periodontitis, aggressive 1
Peripartum major depression and anxiety increased risk
Peripheral cone dystrophy
Peripheral demyelinating neuropathy Central dysmyelinating leukodystrophy Waardenburg syndrome
Peripheral demyelinating neuropathy Central dysmyelinating leukodystrophy Waardenburg syndrome Hirschsprung disease
Peripheral dystrophy
Peripheral nerve hyperexcitability
Peripheral neuropathy
Peripheral neuropathy and corpus callosum agenesis
Peripheral neuropathy chemotherapy induced
Peripheral neuropathy chemotherapy induced protection against
Peripheral neuropathy frontotemporal dementia and Paget disease
Peripheral neuropathy in Charcot Marie Tooth disease childhood
Peripheral neuropathy myopathy and hearing loss
Peripheral neuropathy myopathy hoarseness & hearing loss
Peripheral neuropathy painful
Peripheral neuropathy sensorineural hearing loss tremor & intracranial calcifications
Peripheral neuropathy with gastrointestinal autonomic dysfunction
Peripheral neuropathy with intestinal pseudo occlusion
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral polyneuropathy axonal
Peripheral pulmonary artery stenosis
Perisylvian polymicrogyria
Perisylvian polymicrogyria cerebellar hypoplasia & arthrogryposis
Peritoneal cancer
Peritoneal carcinoma
Peritoneal mesothelioma
Periventricular heterotopia
Periventricular heterotopia cingulate polymicrogyria and midbrain tectal hyperplasia
Periventricular heterotopia with microcephaly
Periventricular neuronal heterotopia
Periventricular nodular heterotopia
Periventricular nodular heterotopia 6
Periventricular nodular heterotopia 7
Periventricular nodular heterotopia 8
Periventricular nodular heterotopia intellectual disability & epilepsy
Periventricular nodular heterotopia polymicrogyria and syndactyly
Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
Perlman syndrome
Permanent neonatal diabetes mellitus
Peroneal muscle atrophy
Peroneal myoatrophy
Peroxisomal acyl CoA oxidase deficiency
Peroxisomal biogenesis disorder
Peroxisomal biogenesis disorder 3b
Peroxisomal fatty acyl CoA reductase 1 deficiency
Peroxisomal targeting motif gain of function
Peroxisomal targeting motif loss of function
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 12A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 3
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Peroxisome biogenesis disorder type 3B
Perrault syndrome
Perrault syndrome 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Perrault syndrome type 3
Perrault syndrome type II
Perrault syndrome with neuro audiological features
Perrault syndrome with neurologic features
Perrault syndrome with renal involvement
Perry syndrome
Persistent Mullerian duct syndrome
Persistent Müllerian duct syndrome
Persistent cloaca
Persistent fetal vasculature
Persistent hyperplasia of the primary vitreous
Persistent hyperplastic primary vitreous
Persistent hyperplastic primary vitreous, autosomal recessive
Persistent left superior vena cava mild mitral regurgitation dilated coronary sinus gross motor and speech delay mental retardation IUGR
Persistent mullerian duct syndrome, type II
Persistent pulmonary hypertension of newborns
Persistent truncus arteriosus
Peter anomaly
Peters Plus syndrome
Peters anomaly
Peters anomaly facial dysmorphism and neurological defects
Peters anomaly with rudimentary lens
Peters plus syndrome
Peters' anomaly
Peters' anomaly with cataracts
Pettigrew syndrome
Peutz Jeghers syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
Pfeiffer syndrome type 3
Phacomatosis pigmentokeratotica and precocious puberty
Phaeochromocytoma
Phaeochromocytoma & medullary thyroid carcinoma
Phaeochromocytoma & paraganglioma
Phaeochromocytoma and paraganglioma
Phaeochromocytoma paraganglioma syndrome
Phaeochromocytoma/paraganglioma
Pharmaco resisrant cluster seizures
Phelan McDermid syndrome
Phenotype modification in Craniosynostosis
Phenotype modification in Dowling Degos disease
Phenotype modification in Parkinsonism
Phenotype modification in congenital heart disease
Phenotype modification in cutis laxa
Phenotype modification in epileptic encephalopathy
Phenotype modification in immunodeficiency
Phenotype modification in intellectual disability
Phenotype modification in spinal muscular atrophy
Phenotype modifier
Phenotype modifier early onset glaucoma
Phenotype modifier in erythropoietic porphyria
Phenotype modifier in infantile myofibromatosis
Phenylalanine hydroxylase deficiency
Phenylketonuria
Phenylketonuria modifier
Phenylthiocarbamide taste sensitivity association
Pheochromocytoma
Pheochromocytoma and Paraganglioma
Pheochromocytoma, susceptibility to
Pheochromocytoma/paraganglioma
Pheochromocytoma/paraganglioma polycythemia
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
Phosphofructokinase deficiency
Phosphoglucomutase deficiency
Phosphoglycerate kinase deficiency
Phosphoglycerate mutase deficiency
Phosphoglycerate mutase deficiency partial
Phosphohydroxylysinuria
Phospholipase A2 associated neurodegeneration
Phospholipid remodelling disease
Phospholipids in medium HDL
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosylpyrophosphate synthetase superactivity & recurrent infections
Phosphorylase kinase deficiency
Phosphorylase kinase deficiency hepatic
Phosphoserine aminotransferase deficiency
Photoparoxysmal response with febrile seizures
Photosensitive generalised & focal occipital epilepsy
Physical/Cognitive Development Speech delay
Phytanoyl CoA hydroxylase deficiency partial
Phytosterolaemia
Pick disease
Pick's disease
Piebaldism
Piebaldism with cafe au lait macules & intertriginous freckling
Piebaldism with sensorineural deafness
Piebaldism, progressive
Pierpont syndrome
Pierre Robin sequence
Pierre Robin sequence & talipes equinovarus
Pierre Robin-like syndrome
Pierson syndrome
Pierson syndrome/ nephrotic syndrome type 5
Pigment dispersion syndrome/pigmentary glaucoma
Pigment dystrophy butterfly shaped
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmentary retinopathy progressive
Pigmentation defects palmoplantar keratoderma & skin carcinoma
Pigmentation variation
Pigmented hypertrichosis with insulin dependent diabetes
Pigmented nodular adrenocortical disease, primary, 3
Pigmented nodular adrenocortical disease, primary, 4
Pigmented paravenous chorioretinal atrophy
Pilarowski-Bjornsson syndrome
Pili torti and nerve deafness
Pili torti-deafness syndrome
Pili torti-developmental delay-neurological abnormalities syndrome
Pilomatrixoma
Pineal hyperplasia AND diabetes mellitus syndrome
Pitt Hopkins syndrome
Pitt-Hopkins syndrome
Pituitary
Pituitary adenoma
Pituitary adenoma & phaeochromocytoma/paraganglioma
Pituitary adenoma 3, multiple types
Pituitary adenoma 5, multiple types
Pituitary blastoma
Pituitary cancer
Pituitary dependent hypercortisolism
Pituitary dysgenesis anxiety disorder & childhood obesity
Pituitary hormone deficiency
Pituitary hormone deficiency and septo optic dysplasia
Pituitary hormone deficiency combined
Pituitary hormone deficiency pituitary dysplasia and morning glory syndrome
Pituitary hormone deficiency severe combined
Pituitary hormone deficiency, combined 5
Pituitary hormone deficiency, combined, 1
Pituitary hormone deficiency, combined, 6
Pituitary hypoplasia
Pituitary stalk interruption syndrome
Pituitary tumour
Pituitary tumours
Pityriasis rubra pilaris
Pk synthase deficiency (p phenotype)
Placental abruption
Plagiocephaly
Plaque calcification increased risk
Plasma HDL cholesterol
Plasma cell deficiency
Plasma cholesterol levels
Plasma lipids
Plasminogen activator inhibitor 1 deficiency
Plasminogen deficiency
Plasminogen deficiency type I
Plasminogen deficiency, type I
Plasminogen levels
Platelet ADP receptor defect
Platelet Activity
Platelet Gs hypofunction
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Platelet aggregation
Platelet count
Platelet count and volume
Platelet dense granule secretion defect excessive bleeding
Platelet disorder
Platelet disorder & inflammatory disease
Platelet disorder familial
Platelet disorder familial & myeloid leukaemia
Platelet disorder familial with associated myeloid malignancy
Platelet function disorder
Platelet reactivity collagen induced
Platelet secretion defect
Platelet specific alloantigen Va (HPA 17bw)
Platelet type bleeding disorder
Platelet volume
Platelet-type bleeding disorder 10
Platelet-type bleeding disorder 11
Platelet-type bleeding disorder 15
Platelet-type bleeding disorder 17
Platelet-type bleeding disorder 18
Platelet-type bleeding disorder 19
Platelet-type bleeding disorder 20
Platelet-type bleeding disorder 8
Platyspondylic dysplasia, Torrance type
Platyspondylic skeletal dysplasia Torrance
Pleuropulmonary blastoma
Plexiform neurofibromas
Pneumonia familial interstitial
Pneumonia idiopathic interstitial
Pneumonia interstitial
Pneumonia neonatal interstitial
Pneumonitis desquamative interstitial
Pneumothorax primary spontaneous
Poikiloderma clericuzio type with neutropaenia
Poikiloderma with neutropaenia
Poikiloderma with neutropenia
Poirier-Bienvenu neurodevelopmental syndrome
Pol III-related leukodystrophy
Polyagglutinable erythrocyte syndrome
Polyarteritis nodosa childhood onset
Polyarteritis nodosa cutaneous childhood onset
Polyarteritis nodosa systemic & cutaneous
Polycystic kidney
Polycystic kidney & hepatic disease
Polycystic kidney & liver disease autosomal dominant
Polycystic kidney disease
Polycystic kidney disease & hepatic fibrosis
Polycystic kidney disease 1
Polycystic kidney disease 2
Polycystic kidney disease 4
Polycystic kidney disease 5
Polycystic kidney disease 6 with or without polycystic liver disease
Polycystic kidney disease autosomal dominant
Polycystic kidney disease autosomal dominant with male infertility
Polycystic kidney disease autosomal recessive
Polycystic kidney disease early onset
Polycystic kidney disease, adult type
Polycystic kidney disease/Nephronophthisis
Polycystic kidney elevated transaminases
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic liver disease
Polycystic liver disease 1
Polycystic liver disease 2
Polycystic liver/kidney disease
Polycystic ovary syndrome
Polycystic ovary syndrome increased risk
Polycythaemia
Polycythaemia vera
Polycythaemia with high epo concentration
Polycythaemia with paraganglioma
Polydactyly
Polydactyly Biliary atresia
Polydactyly nonsyndromic
Polydactyly postaxial
Polydactyly, postaxial, type A6
Polydipsia Hyponatremia
Polyglandular autoimmune syndrome, type 1
Polyglucosan body disease adult
Polyglucosan body myopathy
Polyglucosan myopathy
Polyhydramnios & antenatal Bartter's syndrome
Polyhydramnios talipes & cerebellar hypoplasia
Polymerase proofreading associated polyposis
Polymicrogyria
Polymicrogyria asymmetrical
Polymicrogyria bilateral frontoparietal
Polymicrogyria diffuse
Polymicrogyria like
Polymicrogyria like diffuse
Polymicrogyria like perisylvian
Polymicrogyria with dysmorphic basal ganglia
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria with or without vascular-type ehlers-danlos syndrome
Polymicrogyria with oral motor and/or speech deficits
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Polyneuropathy
Polyneuropathy and ataxia
Polyneuropathy and cerebellar signs
Polyneuropathy and erythromelalgia
Polyneuropathy and hearing loss
Polyneuropathy hearing loss ataxia retinitis pigmentosa & early onset cataract
Polyneuropathy late onset
Polyneuropathy with optic atrophy
Polyostotic fibrous dysplasia, somatic, mosaic
Polypoidal choroidal vasculopathy increased risk
Polyposis
Polyposis & gastrointestinal ganglioneuromas
Polyposis / colorectal cancer
Polyposis juvenile
Polyposis juvenile intestinal
Polyposis with Barrett's oesophagus
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Polysyndactyly coarctation of the aorta and tongue hamartomas
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia & microcephaly progressive
Pontocerebellar hypoplasia & progressive microcephaly leading to infantile lethality
Pontocerebellar hypoplasia 1
Pontocerebellar hypoplasia 2
Pontocerebellar hypoplasia 2E
Pontocerebellar hypoplasia AMPD2 related
Pontocerebellar hypoplasia type 10
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2B
Pontocerebellar hypoplasia type 2C
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 2E
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 9
Pontocerebellar hypoplasia with infantile spasms
Pontocerebellar hypoplasia with infantile spinal muscular dystrophy
Pontocerebellar hypoplasia, type 16
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
Pontocerebellar hypoplasia, type 13
Pontocerebellar hypoplasia, type 14
Pontocerebellar hypoplasia, type 15
Pontocerebellar hypoplasia, type 1C
Pontocerebellar hypoplasia, type 1E
Pontocerebellar hypoplasia, type 1F
Pontocerebellar hypoplasia, type 2F
Poor eculizumab response
Poor growth Ectodermal dysplasia
Poor growth developmental delay microcephaly variable immunodeficiency & osteopenia
Poor metaboliser
Poor montelukast metabolism
Poor paclitaxel metabolism
Poor pregnancy outcome in IVF
Poor prognosis in neuroblastoma
Popliteal pterygium syndrome
Porencephaly
Porencephaly 2
Porencephaly and schizencephaly
Porencephaly bilateral
Porencephaly familial
Porencephaly prenatal
Porencephaly type II
Porencephaly unilateral
Porencephaly with cataracts
Porencephaly with microangiopathic haemolysis
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Poretti Boltshauser syndrome
Porokeratosis
Porokeratosis 3, disseminated superficial actinic type
Porokeratosis 7, multiple types
Porokeratosis 8, disseminated superficial actinic type
Porokeratosis 9, multiple types
Porokeratosis disseminated superficial actinic 1
Porphobilinogen synthase deficiency
Porphyria
Porphyria acute intermittent
Porphyria congenital erythropoietic
Porphyria cutanea tarda
Porphyria erythropoietic
Porphyria erythropoietic modifier of
Porphyria hepatoerythropoietic
Porphyria variegate
Portal hypertension
Portal hypertension non cirrhotic
Portal hypertension, noncirrhotic, 2
Post burn hypertrophic scarring decreased severity
Post ictal hemiparesis
Post transplant serum bilirubin levels
Postanesthetic apnea
Postaxial polydactyly A/B
Postaxial polydactyly syndromic
Postaxial polydactyly type A
Postaxial synpolydactyly
Posterior amelia with pelvis and pulmonary hypoplasia
Posterior column ataxia & retinitis pigmentosa
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior cortical atrophy
Posterior fossa arachnoid cyst with developmental delay intellectual disability and autistic symptoms
Posterior microphthalmos
Posterior polar cataract
Posterior polymorphous corneal dystrophy
Posterior polymorphous dystrophy
Postmenopausal osteoporosis
Potassium-aggravated myotonia
Prader Willi like syndrome
Pravastatin induced myopathy
Pre axial polydactyly autosomal recessive
Pre gestational diabetes
Preaxial polydactyly
Preaxial polydactyly IV developmental delay sensorineural hearing loss skeletal & genitourinary anomalies
Preaxial postaxial polydactyly syndactyly complex
Precocious puberty
Precocious puberty clinodactyly sensorineural hearing loss and failure to thrive
Precocious puberty, central, 2
Predisposition to invasive fungal disease due to CARD9 deficiency
Preeclampsia
Preeclampsia / Intra uterine growth restriction
Preeclampsia in autoimmune disease
Preeclampsia in multigravid pregnancies
Preeclampsia reduced risk
Preeclampsia/eclampsia 5
Pregnancy loss recurrent
Pregnancy loss recurrent early
Pregnancy loss, recurrent, susceptibility to, 1
Pregnancy loss, recurrent, susceptibility to, 3
Preimplantation embryonic lethality 1
Preimplantation embryonic lethality 2
Prekallikrein deficiency
Prelingual hearing loss
Prelingual sensorineural hearing loss
Premature ageing and frontonasal dysostosis
Premature chromatid separation syndrome
Premature ovarian failure
Premature ovarian failure & amenorrhoea
Premature ovarian failure 11
Premature ovarian failure 13
Premature ovarian failure 17
Premature ovarian failure 19
Premature ovarian failure 3
Premature ovarian failure 5
Premature ovarian failure 7
Premature ovarian failure 8
Premature ovarian failure 9
Premature ovarian failure and proximal symphalangism
Premature ovarian failure reduced risk
Premature ovarian insufficiency
Premature ovarian insufficiency and polyglandular disease type II
Premature ovarian insufficiency facial palsy ear deformity and deafness
Premature pubarche
Premature rupture of membranes increased risk
Prematurity congenital severe thrombocytopenia
Prematurity ear malformations patent ductus arteriosus
Prenatal growth restriction retinal dystrophy diabetes insipidus & white matter disease
Presenile dementia and parkinsonism
Presenile dementia with bone cysts
Preterm birth
Preterm delivery increased risk
Pretibial dystrophic epidermolysis bullosa
Primary CD59 deficiency
Primary Ciliary Dyskinesia
Primary VF during acute MI association
Primary adrenal insufficiency
Primary adrenal insufficiency in X linked adrenoleukodystrophy
Primary adrenocortical insufficiency
Primary aldosteronism
Primary aldosteronism seizures and neurologic abnormalities syndrome
Primary amenorrhea
Primary amenorrhea with Müllerian duct abnormality
Primary biliary cirrhosis
Primary ciliary dyskinesia
Primary ciliary dyskinesia & male infertility
Primary ciliary dyskinesia 13
Primary ciliary dyskinesia 16
Primary ciliary dyskinesia 18
Primary ciliary dyskinesia 19
Primary ciliary dyskinesia 2
Primary ciliary dyskinesia 20
Primary ciliary dyskinesia 22
Primary ciliary dyskinesia 23
Primary ciliary dyskinesia 24
Primary ciliary dyskinesia 28
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 34
Primary ciliary dyskinesia 5
Primary ciliary dyskinesia 7
Primary ciliary dyskinesia and situs inversus
Primary ciliary dyskinesia with central complex defects
Primary ciliary dyskinesia/situs viscerum inversus
Primary coenzyme Q10 deficiency 8
Primary coenzyme Q10 deficiency neonatal onset
Primary congenital glaucoma
Primary dilated cardiomyopathy
Primary dystonia adolescent onset
Primary erythromelalgia
Primary failure of tooth eruption
Primary familial brain calcification
Primary familial dilated cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Primary hyperoxaluria type 3
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hypoalphalipoproteinemia
Primary hypomagnesemia
Primary immunodeficiency
Primary immunodeficiency disease
Primary immunodeficiency syndrome
Primary immunodeficiency/dysregulation
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Primary lateral sclerosis
Primary lateral sclerosis adult 1
Primary lateral sclerosis juvenile
Primary microcephaly
Primary microcephaly & intellectual disability
Primary microcephaly & primordial dwarfism
Primary microcephaly severe growth failure brain malformations & dermatitis
Primary myelofibrosis
Primary myelofibrosis with mild leukocytosis
Primary open angle glaucoma
Primary osteoporosis childhood onset
Primary ovarian insufficiency
Primary ovarian insufficiency and short stature
Primary ovarian insufficiency modifier of
Primary periodic paralysis
Primary pigmented nodular adrenocortical disease
Primary progressive aphasia
Primary pulmonary hypertension
Primary retroperitoneal liposarcoma
Primary sclerosing cholangitis
Primordial dwarfism
Primrose syndrome
Prion disease
Prion disease modifier of
Prion disease resistance to
Profound hearing impairment
Progeroid features-hepatocellular carcinoma predisposition syndrome
Progeroid syndrome
Progeroid syndrome atypical
Progeroid syndrome atypical and cardiomyopathy dilated
Progeroid syndrome juvenile
Progression to AIDS
Progressive ataxia and palatal tremor
Progressive ataxia with hearing impairment optic atrophy and sensorimotor neuropathy
Progressive atrial conduction defect
Progressive bilateral mesial temporal sclerosis
Progressive cerebellar & cerebral atrophy
Progressive cerebellar ataxia
Progressive cerebello cerebral atrophy
Progressive cone degeneration
Progressive cone dystrophy
Progressive cone dystrophy (without rod involvement)
Progressive cortical cataract autosomal dominant
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive dystonia childhood onset
Progressive encephalopathy
Progressive encephalopathy and brain atrophy
Progressive encephalopathy early onset
Progressive encephalopathy with elevated lactate
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Progressive external ophthalmoplegia
Progressive external ophthalmoplegia & ataxia
Progressive external ophthalmoplegia & deafness
Progressive external ophthalmoplegia & orthostatic tremor
Progressive external ophthalmoplegia and cerebellar ataxia
Progressive external ophthalmoplegia and parkinsonism
Progressive external ophthalmoplegia modifer of
Progressive external ophthalmoplegia parkinsonism cognitive deficit & behavioural disturbance
Progressive external ophthalmoplegia with encephalopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Progressive external opthalmoplegia ptosis hearing loss proximal myopathy & neuropathy
Progressive familial heart block
Progressive familial heart block type IB
Progressive familial heart block, type 1A
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive hearing loss
Progressive hearing loss autosomal recessive
Progressive hyper and hypopigmentation
Progressive hyperpigmentation
Progressive hyperpigmentation & lentigines
Progressive microcephaly & intractable seizures
Progressive microcephaly intellectual disability developmental delay ataxic gait & seizures
Progressive microcephaly severe developmental delay seizure disorders and esotropia
Progressive movement disorder and hypotonia
Progressive muscle weaknessÿå elevated CK myopathy
Progressive muscular atrophy
Progressive myoclonic ataxia
Progressive myoclonic ataxia with optic atrophy & neuropathy
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy type 7
Progressive myoclonic epilepsy type 8
Progressive myoclonic epilepsy type 9
Progressive myoclonus epilepsy ataxia syndrome
Progressive myoclonus epilepsy with early ataxia
Progressive myositis ossificans
Progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy
Progressive nonfluent aphasia
Progressive osseous heteroplasia
Progressive progeroid features and multisystem anomalies
Progressive pseudorheumatoid dysplasia
Progressive psychomotor deterioration
Progressive retinal dystrophy due to retinol transport defect
Progressive scapulohumeroperoneal distal myopathy
Progressive sclerosing poliodystrophy
Progressive sensorineural hearing impairment
Progressive sensorineural hearing loss and migraine
Progressive spastic paraparesis
Progressive spastic paraplegia peripheral sensory motor polyneuropathy & ataxia
Progressive spasticity dysarthria speech delay
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Progressive supranuclear ophthalmoplegia
Progressive supranuclear palsy
Progressive supranuclear palsy like syndrome
Progressive ventriculomegaly
Prolactinoma
Prolidase deficiency
Proliferative vasculopathy & hydranencephaly hydrocephaly syndrome
Proliferative vitreoretinopathy
Proline dehydrogenase deficiency
Proline rich protein PRB3 deficiency
Prolonged QT interval
Prolonged action duration of succinylcholine and mivacurium
Prolonged electroretinal response suppression
Prolonged neonatal hepatitis
Prolonged prothrombin time
Prominent finger flexor and rimmed vacuoles
Promoter activity
Promyelocytic leukaemia
Properdin deficiency
Properdin deficiency, X-linked
Properdin deficiency, type II
Properdin deficiency, type III
Propionic acidaemia
Propionic acidaemia with autism
Propionic acidaemia with dilated cardiomyopathy adult onset
Propionic acidemia
Propionic acidemia late onset
Proprotein convertase 1/3 deficiency
Prosaposin deficiency
Prostaglandin synthase 1 deficiency
Prostanoid biosynthesis deficiency
Prostate adenocarcinoma
Prostate cancer
Prostate cancer aggressive early onset
Prostate cancer early onset
Prostate cancer increased risk
Prostate cancer predisposition
Prostate cancer protection against association
Prostate cancer reduced risk
Prostate cancer risk
Prostate cancer susceptibility
Prostate cancer susceptibility to
Prostate cancer, somatic
Prostate specific antigen
Prostrate cancer
Protan colour vision defect
Protanomaly
Protanopia
Proteasome associated auto inflammatory syndrome
Proteasome-associated autoinflammatory syndrome 1
Proteasome-associated autoinflammatory syndrome 3
Proteasome-associated autoinflammatory syndrome 5
Protein C deficiency
Protein C deficiency type I
Protein C deficiency type II
Protein C deficiency with recurrent venous thromboembolism
Protein S deficiency
Protein S deficiency disease
Protein S deficiency type I
Protein S deficiency type III
Protein Z deficiency
Protein kinase C delta deficiency
Protein losing enteropathy
Protein losing enteropathy early onset
Protein-losing enteropathy
Proteinuria
Proteinuria and hematuria
Proteinuria nephrotic range
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Proteinuria/Chronic kidney disease
Proteolysis by ADAMTS13 susceptibility to
Proteus like syndrome
Proteus syndrome
Prothrombin deficiency
Protoporphyria erythropoietic
Protoporphyria, erythropoietic, 1
Protoporphyria, erythropoietic, 2
Proximal muscle weakness
Proximal muscle weakness & hypertrophic cardiomyopathy
Proximal muscle weakness & leukoencephalopathy
Proximal muscle weakness and calf hypertrophy
Proximal muscle weakness and winged scapulae
Proximal muscle weakness facial muscle weakness elongated face and ophthalmoplegia
Proximal muscle weakness lordosis and winged scapulae
Proximal myopathy
Proximal myopathy adult onset with electrical myotonia
Proximal myopathy with cardiac involvement
Proximal myopathy with focal depletion of mitochondria
Proximal renal tubular acidosis
Proximal symphalangism 1A
Prune belly syndrome
Prune belly syndrome and otopalatodigital spectrum disorder
Pruritis in biliary cirrhosis patients
Pseudo von Willebrand disease
Pseudo-Hurler polydystrophy
Pseudo-TORCH syndrome 1
Pseudo-TORCH syndrome 3
Pseudoachondroplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Pseudocysts periventricular
Pseudodeficient enzyme activity
Pseudodiastophic dysplasia
Pseudoexfoliation glaucoma
Pseudofolliculitis Barbae increased risk association
Pseudohermaphroditism
Pseudohermaphroditism male
Pseudohermaphroditism male incomplete
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance
Pseudohyperkalaemia familial
Pseudohypoaldosteronism hypertensive chronic kidney disease
Pseudohypoaldosteronism 1
Pseudohypoaldosteronism 1 renal
Pseudohypoaldosteronism 1 systemic
Pseudohypoaldosteronism 2
Pseudohypoaldosteronism type 2A
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
Pseudohypoaldosteronism type II
Pseudohypoparathyroidism
Pseudohypoparathyroidism 1a
Pseudohypoparathyroidism 1a with normocalcaemia
Pseudohypoparathyroidism 1a with testotoxicosis
Pseudohypoparathyroidism 1b with neurological involvement
Pseudohypoparathyroidism 1c
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type I A
Pseudomonas aeruginosa infection in cystic fibrosis increased risk
Pseudopseudohypoparathyroidism
Pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia Stanescu type
Pseudorheumatoid dysplasia progressive
Pseudorheumatoid dysplasia progressive atypical
Pseudovitamin D deficiency rickets
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum & Moya Moya disease
Pseudoxanthoma elasticum autosomal recessive
Pseudoxanthoma elasticum like disease
Pseudoxanthoma elasticum severe early onset
Pseudoxanthoma elasticum with angioid streaks
Psoriasiform dermatitis microcephaly & developmental delay
Psoriasis
Psoriasis 2
Psoriasis 2, pustular
Psoriasis generalised pustular
Psoriasis increased risk
Psoriasis predisposition to
Psoriasis reduced risk
Psoriasis susceptibility
Psoriasis susceptibility to
Psoriasis vulgaris
Psoriasis vulgaris susceptibility to assoc
Psychiatric disease
Psychiatric disorders
Psychomotor delay developmental regression brain atrophy and hypotonia
Psychomotor delay epilepsy left side hemiparesis & esotropia
Psychomotor disability spastic paralysis and epilepsy
Psychomotor regression hypotonia hypertonia & pyramidal syndrome
Psychomotor retardation
Psychomotor retardation Leigh syndrome leukodystrophy and complex I deficiency
Psychomotor retardation autism and ataxia
Psychomotor retardation failure to thrive cardiomyopathy and hepatic cirrhosis
Psychomotor retardation myoclonic epilepsy and brain oedema
Psychomotor retardation myopathy and Leigh syndrome
Psychomotor retardation seizures
Psychosis
Psychosis very early onset
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pterygium syndrome
Pterygium syndrome antecubital
Ptosis and oculomotor synkinesis
Ptosis mypopathy & severe cerebellar atrophy
Ptosis opthalmoplegia congenital myopathy
Puberty onset
Pulmonary airway malformation
Pulmonary alveolar microlithiasis
Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis with hypogammaglobulinaemia
Pulmonary arterial hypertension
Pulmonary arterial hypertension adult onset
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension autosomal dominant
Pulmonary arterial hypertension autosomal recessive
Pulmonary arterial hypertension early onset
Pulmonary arterial hypertension exercise induced
Pulmonary arterial hypertension idiopathic
Pulmonary arterial hypertension increased risk
Pulmonary arterial hypertension lactic acidaemia and failure to thrive
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension with atrial septal defect
Pulmonary arterial hypertension/Pulmonary veno occlusive disease
Pulmonary arterio venous malformations
Pulmonary arteriovenous malformations
Pulmonary artery dilatation
Pulmonary atresia
Pulmonary atresia (without ventricular septal defect) with neurodevelopmental disorder
Pulmonary atresia with intact ventricular septum
Pulmonary atresia with ventricular septal defect
Pulmonary atresia with ventricular septal defect and pulmonary stenosis
Pulmonary emphysema
Pulmonary fibrosis
Pulmonary fibrosis / aplastic anaemia
Pulmonary fibrosis adult onset
Pulmonary fibrosis and aplastic anaemia
Pulmonary fibrosis and cirrhosis
Pulmonary fibrosis and emphysema with pulmonary hypertension
Pulmonary fibrosis and short telomere phenotype
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Pulmonary fibrosis atypical
Pulmonary fibrosis cirrhosis and aplastic anaemia
Pulmonary fibrosis idiopathic
Pulmonary hypertension
Pulmonary hypertension chronic thromboembolic
Pulmonary hypertension primary
Pulmonary hypertension protection against
Pulmonary hypertension, primary, 1
Pulmonary hypertension, primary, 2
Pulmonary hypertension, primary, 4
Pulmonary hypertension, primary, dexfenfluramine-associated
Pulmonary nontuberculosis mycobacterial infection susceptibility to
Pulmonary stenosis
Pulmonary stenosis Fine/gross motor delay speech delay hypotonia molar tooth sign facial dysmorphism tongue nodule
Pulmonary thromboembolism & artery hypertension
Pulmonary tuberculosis
Pulmonary tuberculosis increased risk
Pulmonary vasculopathy
Pulmonary veno occlusive disease
Pulmonary venoocclusive disease 1
Pulmonic stenosis
Pumilio 1 associated developmental delay ataxia and seizure syndrome
Pumilio 1 related cerebellar ataxia adult onset
Punctate cataract juvenile progressive
Punctiform & polychromatic pre Descemet corneal dystrophy
Pupillary light response
Pure spastic paraplegia congenital onset
Purine-nucleoside phosphorylase deficiency
Purpura fulminans
Pustular psoriasis
Pustular psoriasis generalised
Pustular psoriasis generalised with psoriasis vulgaris
Pycnodysostosis
Pycnodysostosis atypical
Pyknodysostosis
Pyle disease
Pyloric stenosis infantile hypertrophic
Pyloric stenosis, infantile hypertrophic, 5
Pyoderma gangrenosum
Pyoderma gangrenosum acne & suppurative hidradenitis
Pyoderma gangrenosum acne & ulcerative colitis
Pyoderma gangrenosum immunodeficiency without severe diarrhea in trichohepatoenteric syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyogenic bacterial infections due to MyD88 deficiency
Pyogenic skin infections colitis & hypogammaglobulinaemia
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyrimidine 5' nucleotidase deficiency
Pyrin associated autoinflammation with neutrophilic dermatosis
Pyroderma gangrenosum and aseptic abcess syndrome
Pyropoikilocytosis
Pyropoikilocytosis, hereditary
Pyrroline 5 carboxylate synthetase deficiency
Pyruvate carboxylase deficiency
Pyruvate carboxylase deficiency type A
Pyruvate carboxylase deficiency type B
Pyruvate carboxylase deficiency type C
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase defect
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency profound neurodegeneration & progressive cerebellar atrophy
Pyruvate kinase deficiency
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity
QRS interval
QT interval
Qualitative or quantitative defects of dysferlin
Question mark ears, isolated
Quinine taste sensitivity
RAG deficiency
RAG1 deficiency
RAG2 deficiency
RAPADILINO syndrome
RASopathy
REM sleep behavior disorder
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
RETINITIS PIGMENTOSA 92
RFT1-CDG
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
RHYNS syndrome
RNA binding affinity
RRM2B-related mitochondrial disease
RSV associated bronchiolitis in preterm babies
RYR1 related disorder
RYR1-Related Disorders
RYR1-related myopathy
Rabson Mendenhall syndrome
Radial ray defect
Radioulnar synostosis
Radioulnar synostosis nonsyndromic
Radioulnar synostosis with amegakaryocytic thrombocytopaenia
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Radioulnar synostosis with haematological defects
Rafiq syndrome
Raine syndrome
Raine syndrome non lethal
Raised blood pressure
Rajab interstitial lung disease with brain calcifications
Rajab interstitial lung disease with brain calcifications 2
Ramon syndrome
Rapadilino syndrome
Rapp Hodgkin syndrome
Rapp-Hodgkin ectodermal dysplasia syndrome
Rare genetic deafness
Rare genetic intellectual disability
Ras associated autoimmune leukoproliferative disorder
Rasmussen Syndrome
Rasmussen encephalitis
Rasopathy
Rauch-Steindl syndrome
Receptor surface expression
Receptor variant
Recessive dystrophic epidermolysis bullosa
Recombinant activity defects
Recombinase activating gene 2 deficiency
Recombination location
Rectal cancer
Recurrent acute liver failure
Recurrent acute liver failure fever related
Recurrent acute pancreatitis in pregnancy
Recurrent aphthous stomatitis
Recurrent ataxia
Recurrent elevated liver transaminases & acute liver failure
Recurrent encephalopathy
Recurrent fever
Recurrent fever Hepatosplenomegaly Pancytopenia
Recurrent fever gastrointestinal ulcers arthritis and persistent Epstein Barr virus infection
Recurrent infection
Recurrent infection and mild neutropaenia
Recurrent infection and mild neutropaenia with severe skin and mucosal ulcerations
Recurrent infection neutropaenia and stomatitis
Recurrent infections
Recurrent intrahepatic cholestasis
Recurrent malaria infection
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Recurrent miscarriage
Recurrent miscarriage reduced risk
Recurrent non immune hydrops fetalis
Recurrent pregnancy loss
Recurrent preimplantation embryonic arrest
Recurrent respiratory infection
Recurrent rhabdomyolysis Muscle weakness Periodic paralysis
Recurrent sinusitis
Recurrent spontaneous abortion
Recurrent spontaneous abortion decreased risk
Recurrent stroke
Recurrent systemic viral infections
Recurrent viral infection and inflammatory arthritis
Recurrent viral respiratory infection
Recurrent vulvovaginal candidiasis
Red blood cell count
Red blood cell traits
Red cell adenosine deaminase overproduction with hemolytic anemia congenital
Red hair increased risk
Reduced 16α hydroxyprogesterone synthesis
Reduced 17 20 lyase activity
Reduced 3 methyl 2 oxovalerate levels
Reduced 8 oxoG incision activity
Reduced ATPase activity
Reduced BMI 1 levels
Reduced BRCA1 interaction
Reduced BRCA2 interaction
Reduced C3 concentration
Reduced CRP levels
Reduced CYP2A6 activity
Reduced DBH activity
Reduced DNA relaxation activity
Reduced DNase activity
Reduced DRD2 receptor density
Reduced GGN1 binding activity
Reduced HDL level in atherosclerosis association
Reduced HNA 3a alloantibody binding
Reduced IL 12 response
Reduced IL10 secretion in Crohn's disease
Reduced IgG titer levels in serum against Helicobacter pylori
Reduced LDL cholesterol and triglyceride levels
Reduced LDL cholesterol levels
Reduced LPL activation
Reduced MASP2 levels
Reduced Norrin signalling activity
Reduced PAPSS activity
Reduced PAR4 induced platelet aggregation
Reduced PAR4 induced platelet response
Reduced PST activity
Reduced RAD51 XRCC3 protein protein interaction
Reduced SERT activity
Reduced TAFI AP levels
Reduced TAFI levels
Reduced Terminal C5b 9 complement complex levels
Reduced absolute neutrophil count
Reduced activity
Reduced activity and dominant negative effects
Reduced activity and expression
Reduced activity and impaired cell surface expression
Reduced activity in receptor desensitisation
Reduced adAMTS6 protein secetion
Reduced aemoglobin and haematocrit levels
Reduced affinity for gemcitabine
Reduced affinity for proliferation cell nuclear antigen
Reduced agonist binding and activation
Reduced agonist potency
Reduced agonist responsiveness
Reduced alcohol metabolism
Reduced aldosterone excretion
Reduced alpha 1 antitrypsin concentration
Reduced alpha 1 antitrypsin function
Reduced anteroseptal wall thickness of the left ventricle in hypertension
Reduced antiviral activity against HIV 1
Reduced antiviral activity against HIV 1 and Alu retrotransposons
Reduced apoptotic ability
Reduced apoptotic function
Reduced attenuation of cell proliferation
Reduced basal activity
Reduced basal signalling
Reduced binding
Reduced binding affinity
Reduced binding capacity
Reduced binding capacity for LPS and lipopeptides
Reduced biotin affinity
Reduced blood pressure
Reduced catalytic activity
Reduced catalytic efficiency
Reduced cell migration
Reduced cell surface and total expression
Reduced cell surface and total expression decreased maximal binding
Reduced cell surface expression
Reduced cell surface expression and defective ligand binding/signalling
Reduced channel activity
Reduced chromosomal damage in coke oven workers
Reduced collagen induced aggregation
Reduced copper accumulation
Reduced corepressor activity
Reduced cortisol binding affinity
Reduced cortisol binding capacity
Reduced current and chloride ion transport
Reduced current expression
Reduced current magnitude
Reduced delayed hypersensitivity
Reduced diastolic blood pressure
Reduced dimerization
Reduced dimerization and catalytic efficiency
Reduced efflux activity
Reduced enzyme activity
Reduced enzyme activity with DAUN
Reduced enzyme activity with DOX/DAUN
Reduced enzyme stability
Reduced expression
Reduced expression (weak D)
Reduced expression levels
Reduced expression/poor metaboliser
Reduced factor V levels
Reduced fasting serum C peptide concentration association
Reduced fucosyltransferase activity
Reduced function
Reduced function & thiopurine intolerance
Reduced gene expression
Reduced generation of multiple motile cilia
Reduced glucuronidated steroid levels
Reduced haemoglobin levels
Reduced height in Peruvians
Reduced hemolysis in sickle cell disease
Reduced heparin binding
Reduced hepatocyte growth factor levels
Reduced high density lipoprotein cholesterol
Reduced holoprotein levels
Reduced insulin sensitivity
Reduced ion transport activity
Reduced kidney function hyperuricaemia and impaired urine concentrating ability
Reduced kinase activity
Reduced ligand activation
Reduced ligand binding
Reduced lipase activity
Reduced mRNA expression
Reduced metformin uptake
Reduced methotrexate clearance
Reduced multidrug resistance
Reduced oxalate transport activity
Reduced oxygen affinity
Reduced phosphatase activity
Reduced phospho MAPK levels
Reduced physical aggression
Reduced plasma HDL cholesterol
Reduced plasma LDL C levels
Reduced plasma renin activity
Reduced plasma triglyceride levels
Reduced post stroke mortality
Reduced potency and impaired cell surface expression
Reduced proapoptotic activity
Reduced production/secretion
Reduced protein C activity
Reduced protein cleavage by ADAMTS13
Reduced protein expression
Reduced protein stability
Reduced reactive oxygen species production
Reduced receptor activity
Reduced receptor current density
Reduced receptor current density and gating
Reduced receptor expression
Reduced receptor gating
Reduced recombination efficiency
Reduced repression of catalase I transcription
Reduced repression of insulin & catalase I transcription
Reduced retinol levels
Reduced risk of coronary artery disease association
Reduced risk of multiple myeloma association
Reduced s warfarin metabolism
Reduced semen quality
Reduced sensitivity to clozapine
Reduced serum SHBG levels
Reduced serum creatine kinase levels
Reduced serum folate
Reduced serum myo inositol concentration
Reduced serum noncholesterol sterols
Reduced serum urate levels
Reduced signalling
Reduced sleep duration
Reduced sodium binding capacity
Reduced specific activity
Reduced spermine sensitivity
Reduced substrate oxidation rate
Reduced sugar consumption in obesity association
Reduced sulphate uptake
Reduced surface expression
Reduced thermostability
Reduced total cholesterol
Reduced transactivating function
Reduced transcription
Reduced transcriptional activity
Reduced transport activity
Reduced transport capacity
Reduced transport rate
Reduced tryptophan and N trimethyl 5 aminovalerate levels
Reduced tryptophan levels
Reduced uptake activity
Reduced urate transport activity
Reduced urinary kallikrein activity
Reduced water permeability
Reducing body myopathy
Refractory anaemia with excess blasts type 1
Refractory cytopaenia with multilineage dysplasia
Refractory epilepsy
Refractory epilepsy & autism spectrum disorder
Refractory epilepsy & developmental delay
Refractory epilepsy developmental delay & cognitive dysfunction
Refractory epilepsy unclassified
Refractory focal epilepsy with primary brain calcification
Refractory lupus nephritis
Refractory rickets
Refractory seizures & autistic features
Refractory seizures early onset & progressive neurological decline
Refractory ventricular tachycardia storm
Refsum disease
Refsum disease infantile
Refsum disease, adult, 1
Regressed motor development and severe dystonia
Reifenstein syndrome
Reis-Bucklers corneal dystrophy
Relapsing remitting multiple sclerosis
Relative macrocephaly
Renal adysplasia
Renal agenesis
Renal agenesis & congenital malformations
Renal agenesis / hypodysplasia
Renal agenesis oligomeganephronia & total colonic aganglionosis
Renal agenesis/Hypoplasia/Dysplasia
Renal amyloidosis
Renal cancer
Renal carcinoma
Renal carnitine transport defect
Renal cell carcinoma
Renal cell carcinoma susceptibility
Renal cell carcinoma with paraneoplastic erythrocytosis
Renal cell carcinoma, papillary, 1
Renal coloboma syndrome
Renal cortical hyperechogenicity
Renal cystic disease
Renal cystic dysplasia syndromic
Renal cysts
Renal cysts and diabetes
Renal cysts and diabetes syndrome
Renal disease
Renal disease with hepatic and cardiac anomalies
Renal dysfunction rod cone dystrophy and sensorineural hearing loss
Renal dysplasia
Renal failure and polycystic kidney disease
Renal fanconi syndrome and kidney failure
Renal function in diabetes
Renal glucosuria
Renal hepatic pancreatic dysplasia
Renal hypodysplasia
Renal hypodysplasia/aplasia 1
Renal hypodysplasia/aplasia 3
Renal hypomagnesaemia refractory seizures and intellectual disability
Renal hypomagnesemia 2
Renal hypomagnesemia 4
Renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 6
Renal hypophosphataemia
Renal hypoplasia
Renal hypouricaemia
Renal hypouricaemia type 2
Renal insufficiency
Renal lithiasis & decreased kidney phosphate reabsorption
Renal malformation
Renal neoplasm
Renal tract malformation
Renal tubular acidosis
Renal tubular acidosis & hearing loss
Renal tubular acidosis IV
Renal tubular acidosis distal
Renal tubular acidosis distal with sensorineural deafness
Renal tubular acidosis sensorineural deafness
Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, 4, with hemolytic anemia
Renal tubular acidosis, distal, with normal red cell morphology
Renal tubular dysgenesis
Renal tubular dysgenesis transient
Renal-hepatic-pancreatic dysplasia 1
Renal-hepatic-pancreatic dysplasia 2
Renpenning syndrome
Repeated implantation failure
Repeated infections failure to thrive
Reproductive difficulties
Resistance to Trypanosoma brucei rhodesiense parasite
Resistance to paclitaxel therapy
Resistant partial seizures
Respiratory chain & 2 oxoacid dehydrogenase deficiency combined
Respiratory chain deficiency
Respiratory chain deficiency combined
Respiratory disease aspirin exacerbated
Respiratory disease aspirin exacerbated reduced risk
Respiratory distress
Respiratory distress neonatal
Respiratory distress syndrome
Respiratory distress syndrome neonatal
Respiratory failure
Respiratory failure and encephalopathy
Respiratory failure and flaccidity/hypotonia
Respiratory failure and scleroderma
Respiratory failure arthrogryposis and dysmorphia
Respiratory failure dysmorphia epilepsy and brain atrophy
Respiratory failure in infancy
Respiratory failure metabolic acidosis and dysmorphia
Respiratory failure metabolic acidosis and elevated alanine
Respiratory failure neonatal
Respiratory failure surfactant dysfunction
Respiratory infections
Respiratory infections & severe pulmonary hypertension
Respiratory infections failure to thrive & profound lymphopaenia
Respiratory infections with bronchiectasis
Respiratory insufficiency due to muscle weakness generalized hypotonia and encephalopathy
Respiratory papillomatosis
Respiratory papillomatosis, juvenile recurrent, congenital
Respiratory symptoms of cystic fibrosis
Response to cigarette smoke extract & shear stress
Response to hydrochlorothiazide
Response to regorafenib
Response to statins
Restless legs syndrome
Restrictive cardiomyopathy
Restrictive dermopathy
Reticular dysgenesis
Reticulate acropigmentation of Kitamura
Retinal arterial tortuosity
Retinal degeneration
Retinal degeneration and cardiomyopathy
Retinal degeneration autosomal recessive
Retinal degeneration early onset
Retinal degeneration in ciliopathies
Retinal degeneration late onset
Retinal degeneration non syndromic recessive
Retinal degeneration pericentral
Retinal degeneration profound hearing impairment agenesis of corpus callosum primary amenorrhea and liver affection
Retinal degeneration, autosomal recessive, clumped pigment type
Retinal detachment
Retinal disease
Retinal disorder
Retinal disorder X linked
Retinal dystrophy
Retinal dystrophy autosomal dominant
Retinal dystrophy autosomal recessive
Retinal dystrophy childhood onset
Retinal dystrophy early onset
Retinal dystrophy early onset flecked
Retinal dystrophy early onset severe
Retinal dystrophy early onset with macular staphyloma
Retinal dystrophy failure to thrive and neurodevelopmental abnormality
Retinal dystrophy modifier of
Retinal dystrophy polydactyly and obesity
Retinal dystrophy severe childhood onset
Retinal dystrophy with early macular involvement
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy with intraretinal cystoid spaces
Retinal dystrophy with macular cystoid spaces
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy/Achromatopsia
Retinal pigmentosa
Retinal vessel disease
Retinitis Pigmentosa
Retinitis pigmentosa
Retinitis pigmentosa & hearing loss
Retinitis pigmentosa & polydactyly
Retinitis pigmentosa & retinal telangiectasia
Retinitis pigmentosa & rod cone dystrophy
Retinitis pigmentosa / choroideremia
Retinitis pigmentosa / cone rod degeneration
Retinitis pigmentosa / cone rod dystrophy
Retinitis pigmentosa / leber congenital amaurosis
Retinitis pigmentosa / rod cone dystrophy
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 18
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 27
Retinitis pigmentosa 3
Retinitis pigmentosa 32
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 4, autosomal recessive
Retinitis pigmentosa 40
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 53
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 59
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 64
Retinitis pigmentosa 66
Retinitis pigmentosa 68
Retinitis pigmentosa 7
Retinitis pigmentosa 7, digenic
Retinitis pigmentosa 70
Retinitis pigmentosa 71
Retinitis pigmentosa 72
Retinitis pigmentosa 73
Retinitis pigmentosa 75
Retinitis pigmentosa 76
Retinitis pigmentosa 77
Retinitis pigmentosa 78
Retinitis pigmentosa 79
Retinitis pigmentosa 80
Retinitis pigmentosa 84
Retinitis pigmentosa 86
Retinitis pigmentosa 88
Retinitis pigmentosa 89
Retinitis pigmentosa 90
Retinitis pigmentosa X linked
Retinitis pigmentosa and hearing loss
Retinitis pigmentosa and hereditary sensory autonomic neuropathy
Retinitis pigmentosa atypical
Retinitis pigmentosa autosomal dominant
Retinitis pigmentosa autosomal recessive
Retinitis pigmentosa autosomal recessive/Leber congenital amaurosis
Retinitis pigmentosa ciliopathy
Retinitis pigmentosa early onset
Retinitis pigmentosa early onset / leber congenital amaurosis
Retinitis pigmentosa early onset with macular coloboma
Retinitis pigmentosa hearing loss premature ageing short stature mild intellectual disability and distinctive gestalt
Retinitis pigmentosa juvenile
Retinitis pigmentosa juvenile onset
Retinitis pigmentosa mild & deafness
Retinitis pigmentosa modifier of
Retinitis pigmentosa nanophthalmos & optic disc drusen
Retinitis pigmentosa non ciliopathy
Retinitis pigmentosa nonsyndromic
Retinitis pigmentosa pericentral
Retinitis pigmentosa recessive no hearing loss
Retinitis pigmentosa severe
Retinitis pigmentosa simplex
Retinitis pigmentosa syndromic
Retinitis pigmentosa with Bardet Biedl syndrome
Retinitis pigmentosa with idiopathic demyelinating optic neuritis
Retinitis pigmentosa with intellectual disability
Retinitis pigmentosa with macular pseudocoloboma
Retinitis pigmentosa without posterior column ataxia
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis punctata albescens
Retinoblastoma
Retinoencephalopathy with occiptal lobe epilepsy
Retinoic acid catabolism
Retinol deficiency
Retinopathy
Retinopathy & optic atrophy
Retinopathy autoimmune
Retinopathy non syndromic
Retinopathy of prematurity
Retinopathy of prematurity increased risk
Retinoschisis
Retinoschisis X linked
Retinoschisis X linked juvenile
Rett like syndrome
Rett like syndrome with infantile onset seizures
Rett syndrome
Rett syndrome Hanefeld variant
Rett syndrome atypical
Rett syndrome features
Rett syndrome variant with autism
Rett syndrome variant with infantile spasms
Rett syndrome with hypoplastic hippocampus
Rett syndrome, congenital variant
Reynolds syndrome
Rh deficiency syndrome
Rh mod blood group phenotype
Rh mod phenotype
Rh null syndrome
Rh-null, regulator type
RhD blood group variant
RhD blood group variant (RhDVII)
RhD blood group variant (RhDel)
RhD category D-VII
RhD weak D
Rhabdoid tumor predisposition syndrome 1
Rhabdoid tumor predisposition syndrome 2
Rhabdoid tumour
Rhabdoid tumour predisposition syndrome
Rhabdomyolysis
Rhabdomyolysis & fluctuating asymptomatic hyperCKaemia
Rhabdomyolysis & muscular dystrophy
Rhabdomyolysis episodes
Rhabdomyolysis exercise induced
Rhabdomyolysis fever induced
Rhabdomyolysis hypoglycaemia hyperammonaemia & susceptibility to cardiac tachyarrhythmias
Rhabdomyolysis myalgia syndrome
Rhabdomyolysis recurrent
Rhabdomyosarcoma
Rhabdomyosarcoma embryonal
Rhabdomyosarcoma, somatic
Rhd, weak d, type I
Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment familial exudative vitreoretinopathy associated
Rhegmatogenous retinal detachment reduced risk
Rhesus blood group variant
Rhesus negative blood group
Rheumatoid arthritis
Rheumatoid arthritis in females
Rheumatoid arthritis increased risk
Rheumatoid arthritis interstitial lung disease
Rheumatoid arthritis protection against
Rheumatoid arthritis reduced risk
Rheumatoid arthritis seronegative
Rheumatoid arthritis severity & response to infliximab
Rheumatoid arthritis susceptibility association
Rheumatoid arthritis susceptibility to
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Riboflavin responsive complex 1 deficiency
Riboflavin responsive mitochondrial myopathy
Ribose 5 phosphate isomerase deficiency
Richieri Costa Pereira syndrome
Richieri Costa-Pereira syndrome
Rickets hypophosphataemic
Rickets hypophosphataemic autosomal dominant
Rickets hypophosphataemic autosomal recessive
Rickets vitamin D dependent type I
Rickets vitamin D dependent type IA
Rickets vitamin D dependent type II
Rickets vitamin D dependent type IIA
Rickets vitamin D dependent type III
Rickets vitamin D resistant
Rickets vitamin D resistant with alopecia
Rickets vitamin D resistant without alopecia
Rieger anomaly
Rieger anomaly with glaucoma
Rieger syndrome
Rienhoff syndrome
Rigid spine muscular dystrophy 1
Rigidity tremor abnormal eye movements
Rimmed vacuolar myopathy
Ring dermoid of the cornea
Rippling muscle disease
Rippling muscle disease & toe walking
Rippling muscle disease 2
Ritscher-Schinzel syndrome
Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome 3
Roberts syndrome
Roberts-SC phocomelia syndrome
Robinow syndrome
Robinow syndrome autosomal dominant
Robinow syndrome autosomal recessive
Rod and cone photoreceptor degeneration
Rod cone dystrophy
Rod cone dystrophy early onset
Rod cone dystrophy non syndromic
Rod-cone dystrophy
Rokitansky Kuster Hauser syndrome
Rolandic epilepsy
Rolandic epilepsy bilateral perisylvian polymicrogyria
Rolandic epilepsy exercise induced dystonia
Rolandic epilepsy oral dyspraxia mental retardation
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome
Romano Ward syndrome
Rosai Dorfman disease/Erdheim Chester disease
Rosenberg Chutorian syndrome
Rothmund Thomson / RAPADILINO syndrome
Rothmund Thomson syndrome
Roussy Levy syndrome
Roussy-Lévy syndrome
Rubella vaccine induced immune response
Rubinstein Taybi syndrome
Rubinstein Taybi syndrome type 2
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Russell Silver syndrome
S adenosylhomocysteine hydrolase deficiency
SANDO
SANDO with dopamine agonist responsive parkinsonism
SARS CoV 2 infection susceptibility to
SATB2 associated syndrome
SCID due to ADA deficiency, delayed onset
SCN2A-related generalized epilepsy with febrile seizures plus
SEPN related myopathy
SEPN1-Related Disorders
SERKAL syndrome
SH alloantigen
SHORT STATURE, DAUBER-ARGENTE TYPE
SHORT syndrome
SHOX deficiency modifier of
SHOX haploinsufficiency
SHOX-related short stature
SICK SINUS SYNDROME 4
SIN3A-related intellectual disability syndrome due to a point mutation
SLC10A1 deficiency
SLC35A1-CDG
SLC35A2-CDG
SLC39A8-CDG
SLC6A8 deficiency
SLFN14 related thrombocytopenia
SOFT syndrome
SOPH syndrome with growth hormone deficiency and normal bone age
SPECC1L syndrome
SPONASTRIME dysplasia
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
SR B1 deficiency
SRNS
SSADH deficiency & incomplete WAGR syndrome with obesity
STAT1 deficiency
STAT2 deficiency
STAT3 deficiency
STAT3 gain of function
STAT3-related early-onset multisystem autoimmune disease
STING-associated vasculopathy with onset in infancy
STT3A-CDG
STXBP1 encephalopathy
SUDDEN INFANT DEATH SYNDROME
SURF1 deficiency
Saccharin taste sensitivity association
Sacral agenesis
Sacral agenesis ossification of vertebral bodies and persistent notochordal canal
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Saethre Chotzen syndrome
Saethre Chotzen syndrome like
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Salla disease
Salt and Pepper syndrome
Salt losing tubulopathy
Samaritan myopathy
Sandhoff disease
Sandhoff disease infantile
Sandhoff disease juvenile
Sandhoff disease late onset
Sandhoff disease, adult form
Sanfilippo syndrome A
Sanfilippo syndrome B
Sanfilippo syndrome B slow progression
Santos syndrome
Saposin A deficiency
Saposin C deficiency
Sarcoglycanopathy
Sarcoidosis
Sarcoidosis early onset
Sarcoidosis increased risk
Sarcoidosis related uveitis
Sarcoidosis susceptibility to
Sarcoma
Sarcoma adult onset
Sarcoma modifier of
Sarcosinemia
Sarcotubular myopathy
Satoyoshi syndrome
Scalp ear nipple syndrome
Scalp hemangioma
Scalp-ear-nipple syndrome
Scapular winging
Scapulohumeral muscular dystrophy
Scapuloperoneal muscular dystrophy & dropped head fibres
Scapuloperoneal myopathy
Scapuloperoneal spinal muscular atrophy
Schaaf Yang syndrome
Schaaf-Yang syndrome
Scheie syndrome
Schimke immuno osseous dysplasia
Schimke immuno-osseous dysplasia
Schindler disease
Schinzel Giedion syndrome
Schinzel phocomelia syndrome
Schinzel-Giedion syndrome
Schizencephaly
Schizencephaly & cortical malformations
Schizencephaly bilateral
Schizencephaly renovascular hypertension retinal arteriosclerosis & alveolar hemorrhage
Schizencephaly unilateral
Schizoaffective disorder
Schizoaffective disorder bipolar subtype
Schizoaffective disorder depressed subtype
Schizophrenia
Schizophrenia / bipolar disorder
Schizophrenia and ankylosing spondylitis
Schizophrenia and autism spectrum disorder
Schizophrenia childhood onset
Schizophrenia in females
Schizophrenia increased risk
Schizophrenia reduced risk
Schizophrenia severe increased risk association
Schizophrenia susceptibility
Schizophrenia susceptibility to
Schizophrenia ultra resistant
Schizophrenia with global cognitive deficits and good educational attainment
Schizophrenia/autism spectrum disorder susceptibility to
Schneckenbecken dysplasia
Schneckenbecken like dysplasia
Schnyder crystalline corneal dystrophy
Schubert Bornschein congenital stationary night blindness
Schuurs Hoeijmakers syndrome
Schuurs-Hoeijmakers syndrome
Schwachman Diamond syndrome
Schwachman Diamond syndrome modifier of
Schwannomas
Schwannomatosis
Schwannomatosis 2
Schwannomatosis familial
Schwartz Jampel syndrome
Schwartz Jampel syndrome type 1
Schwartz-Jampel syndrome
Schwartz-Jampel syndrome type 1
Schöpf Schulz Passarge syndrome
Scianna blood group variation
Sclerocornea microphthalmia aphakia complex
Sclerocornea non syndromic bilateral total
Sclerocornea peripheral
Sclerocornea total
Sclerosing cholangitis short stature hypothyroidism and abnormal tongue pigmentation
Sclerosing skeletal dysplasia with adrenocortical neoplasia
Sclerosteosis
Sclerosteosis 2
Scoliosis
Scoliosis & muscle weakness
Scoliosis adolescent idiopathic
Scoliosis idiopathic
Scoliosis severe
Scoliosis, isolated, susceptibility to, 1
Scott syndrome
Sd(a ) blood group variant
SeSAME syndrome
Seasonal affective disorder
Sebastian syndrome
Seborrhoeic keratosis
Seckel like syndrome
Seckel syndrome
Seckel syndrome 1
Seckel syndrome 4
Seckel syndrome 9
Secondary amenorrhea
Secondary amyloidosis in the cornea
Secondary haemolytic uraemic syndrome
Secondary hypothyroidism
Secondary lymphoedema
Sector retinitis pigmentosa & hearing loss
Segawa syndrome
Seip syndrome
Seizure
Seizure developmental delay failure to thrive motor and speech delay intellectual disability
Seizure disorder intellectual disability muscle weakness hypotonia
Seizures
Seizures & developmental delay
Seizures & developmental regression
Seizures & psychomotor delay
Seizures Autism spectrum disorder Psychiatric symptoms
Seizures Learning difficulty
Seizures and cerebellar ataxia
Seizures and hypoplasia of the corpus callosum
Seizures and intellectual disability
Seizures and neurodevelopmental disorders increased risk
Seizures and speech & developmental regression
Seizures anoxic epileptic
Seizures ataxia hypotonia optic atrophy developmental delay & microcephaly
Seizures benign familial neonatal
Seizures benign infantile
Seizures benign neonatal
Seizures benign neonatal infantile
Seizures developmental delay & multiple joint contractures
Seizures developmental delay dysmorphic features pica & paroxysmal behaviour with nonspecific encephalopathy on EEG
Seizures dysmorphism and neurologic & cardiac abnormalities
Seizures early onset
Seizures fever related
Seizures folinic acid responsive
Seizures generalised tonic clonic and febrile seizures delayed myelination
Seizures generalized
Seizures generalized tonic clonic
Seizures global developmental delay hypotonia elevated lactate and Complex I and IV deficiency
Seizures hearing loss & dysmorphic features
Seizures increased risk
Seizures intellectual disability & attention deficit hyperactivity disorder
Seizures intellectual disability & autistic features
Seizures intellectual disability hypotonia scoliosis macrocephaly hypertelorism & renal dysfunction
Seizures intellectual disability optic atrophy muscular hypotonia and brain abnormalities
Seizures learning disability
Seizures microcephaly & short stature
Seizures microcephaly hypotonia & multiple congenital anomalies
Seizures motor delay & delayed speech development
Seizures neonatal onset
Seizures new onset & status epilepticus
Seizures speech delay ADHD
Seizures tonic spasm myoclonic
Seizures with delayed speech
Seizures with intellectual disability
Seizures with psychomotor delay
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 5
Seizures, benign familial neonatal, 1
Seizures, benign familial neonatal, 1, and/or myokymia
Seizures, benign familial neonatal, 2
Seizures, early-onset, with neurodegeneration and brain calcifications
Seizures-scoliosis-macrocephaly syndrome
Selective immunoglobulin M deficiency
Selective pituitary resistance to thyroid hormone
Selective tooth agenesis nonsyndromic
Selective tooth agenesis syndromic
Selenoprotein related disease
Semantic dementia
Semilobar holoprosencephaly
Seminoma
Sengers syndrome
Senior Loken syndrome
Senior-Loken syndrome 8
Senior-Loken syndrome 9
Sensenbrenner syndrome
Sensitivity to proteolytic cleavage
Sensorimotor neuropathy
Sensorimotor neuropathy with ataxia
Sensorimotor peripheral neuropathy
Sensorineural deafness
Sensorineural deafness in SMS
Sensorineural deafness nonsyndromic
Sensorineural deafness progressive hepatic & renal failure & lactic acidaemia
Sensorineural deafness with hypertrophic cardiomyopathy
Sensorineural deafness with palmoplantar lichen planus
Sensorineural hearing impairment idiopathic
Sensorineural hearing loss
Sensorineural hearing loss & leukonychia
Sensorineural hearing loss and short stature
Sensorineural hearing loss bilateral
Sensorineural hearing loss developmental delay hypoglycaemia & combined OXPHOS deficiency
Sensorineural hearing loss developmental delay with inguinal/umbilical hernia
Sensorineural hearing loss disorder
Sensorineural hearing loss nonsyndromic
Sensorineural hearing loss nonsyndromic prelingual
Sensorineural hearing loss postlingual nonsyndromic
Sensorineural hearing loss severe/profound and retinitis pigmentosa
Sensorineural hearing loss with good cochlear implantation outcomes
Sensorineural hearing loss with poor cochlear implantation outcomes
Sensory and autonomic neuropathy
Sensory and autonomic neuropathy type 1E
Sensory and autonomic neuropathy type I
Sensory and autonomic neuropathy type I with malignant hyperthermia susceptibility
Sensory and autonomic neuropathy type IC
Sensory and autonomic neuropathy type IE
Sensory and autonomic neuropathy type IV
Sensory and autonomic neuropathy type IX
Sensory and autonomic neuropathy type V
Sensory ataxia
Sensory ataxia autosomal dominant
Sensory ataxia neuropathy ophthalmoparesis and stroke
Sensory ataxic neuropathy ophthalmoplegia dysarthria and gastroparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory axonal neuropathy
Sensory motor polyneuropathy
Sensory neurodegeneration with loss of pain perception
Sensory neuropathy
Sensory neuropathy 1
Sensory neuropathy with bone destruction
Sensory neuropathy with dementia & hearing loss
Sensory processing disorder
Sensorymotor polyneuropathy and distal weakness
Sepiapterin reductase deficiency
Sepsis
Sepsis and multiple organ dysfunction in major trauma
Sepsis modifier of
Sepsis susceptibility
Septate uterus
Septic optic dysplasia
Septic shock modifier of
Septo optic dysplasia
Septo optic dysplasia / Moebius syndrome
Septo-optic dysplasia sequence
Serrated polyposis syndrome
Sertoli cell only syndrome
Serum IgM levels
Serum lipid levels in drinkers
Serum progesterone levels in bipolar disorder
Serum urate levels
Serum vitamin B12 levels
Setleis syndrome
Severe NIHF with hx of a previously affected pregnancy
Severe X-linked mitochondrial encephalomyopathy
Severe X-linked myotubular myopathy
Severe anaemia lactic acidosis & developmental delay
Severe anaemia with reticulocytosis
Severe asphyxiating thoracic dysplasia
Severe autosomal recessive muscular dystrophy of childhood - North African type
Severe axonal neuropathy with cranial nerve involvement
Severe bleeding
Severe brain atrophy tau pathology & frontotemporal dementia early onset
Severe brain malformation
Severe chylothorax poor response to therapy
Severe combined immune deficiency syndrome
Severe combined immunodeficiency
Severe combined immunodeficiency disease
Severe combined immunodeficiency due to CARMIL2 deficiency
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency with bone marrow failure skeletal dysplasia and congenital malformations
Severe combined immunodeficiency, B cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Severe congenital myotubular myopathy
Severe congenital neutropenia
Severe cystic degeneration of the brain
Severe delays seizures microcephaly sensorineural deafness and chorioretinal defect
Severe dermatitis multiple allergies & metabolic wasting syndrome
Severe dysmorphic syndrome with schizencephaly periventricular calcifications and cataract
Severe dysplasia
Severe dystonia
Severe early infantile encephalopathy progressive microcephaly axial hypotonia appendicular hypertonia & refract epilepsy
Severe early-childhood-onset retinal dystrophy
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe global developmental delay
Severe hydrocephalus & shortened limbs
Severe hypertension and renal microangiopathy
Severe insulin resistance and diabetes mellitus
Severe intellectual deficiency
Severe intellectual disability Microcephaly speech delay seizures and brain abnormalities
Severe intellectual disability facial dysmorphism speech delay and brain abnormalities
Severe intellectual disability hypotonia macrocephaly brain abnormalities possible mild periventricular leukomalacia
Severe intellectual disability hypotonia seizures facial dysmorphism brain abnormalities and failiure to thrive
Severe intellectual disability microcephaly speech delay hypotonia brain abnormalities and severe B cell deficiency
Severe intellectual disability multiple congenital anomalies & facial dysmorphisms
Severe intellectual disability seizures absent speech rounded premaxilla & decreased subcutaneous fat
Severe intellectual disability with facial dysmorphism speech delay microcephaly with central and obstructive apnea
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Severe iron overload
Severe malaria increased risk
Severe microcephaly short stature and intellectual disability
Severe motor and cognitive impairment cerebellar atrophy and dysmorphic features
Severe motor and language delay West syndrome pontocerebellar hypoplasia behavioural problems and facial dysmorphism
Severe motor delay and leukoencephalopathy
Severe muscular hypotonia progressive cerebral atrophy and therapy refractory epilepsy
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy of infancy
Severe myoclonic epilepsy of infancy borderline
Severe neonatal anemia in glucose 6 phosphate isomerase deficiency
Severe neonatal hypotonia SMA like presentation
Severe neonatal-onset encephalopathy with microcephaly
Severe osteopenia & fractures
Severe ptosis ophthalmoplegia scoliosis without myopathy
Severe regressive autism intellectual disability and epilepsy
Severe respiratory distress syndrome in preterm infancy
Severe retinal dystrophy early onset
Sex hormone binding globulin deficiency
Shah Waardenburg syndrome
Sheldon Hall syndrome & vertebral fusions
Short QT syndrome
Short QT syndrome 3
Short QT syndrome type 1
Short QT syndrome type 2
Short QT syndrome type 3
Short QT3 syndrome & autism epilepsy phenotype
Short chain 3 hydroxyacyl CoA dehydrogenase deficiency
Short chain acyl CoA dehydrogenase deficiency
Short chain enoyl CoA hydratase deficiency
Short coupled variant of torsade de pointes
Short limbed dwarfism
Short long bones
Short long bones bowed femur clubfeet deviation of hand scoliosis micrognathia and abnormal filling stomach
Short normal stature
Short rib polydactyly
Short rib polydactyly and Jeune syndrome
Short rib polydactyly syndrome
Short rib polydactyly syndrome Majewski type
Short rib polydactyly syndrome type 1
Short rib polydactyly syndrome type 2
Short rib polydactyly syndrome type 3
Short rib polydactyly syndrome type 4
Short rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia
Short rib thoracic aplasia type 5
Short rib thoracic dysplasia
Short rib thoracic dysplasia 10 with/without polydactyly
Short rib thoracic dysplasia 9 with/without polydactyly
Short rib thoracic dysplasia type 3
Short rib thoracic dysplasia with polydactyly
Short rib thoracic dysplasia without polydactyly
Short rib-polydactyly syndrome
Short rib-polydactyly syndrome, Verma-Naumoff type
Short ribs
Short sleep cycle
Short stature
Short stature & intellectual disability
Short stature & intrauterine growth retardation
Short stature & relative macrocephaly
Short stature and advanced bone age, with early-onset osteoarthritis
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
Short stature and intellectual disability
Short stature and mild skeletal defects
Short stature and mild spondylo epiphyseal changes
Short stature and osteochondritis dissecans
Short stature autosomal dominant
Short stature brachydactyly intellectual developmental disability and seizures
Short stature cardiac & skeletal abnormalities blue sclerae hyperopia & loose skin
Short stature delayed bone age dysmorphic features cerebellar hypoplasia and cognitive dysfunction
Short stature delayed puberty osteopaenia & hyperinsulinaemia
Short stature developmental delay & congenital heart defects
Short stature due to growth hormone qualitative anomaly
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to partial GHR deficiency
Short stature due to primary acid-labile subunit deficiency
Short stature gonadal failure & early onset metabolic syndrome
Short stature hypermobility hypotonia with motor delay
Short stature microcephaly & dysmorphic facies
Short stature microcephaly & hearing loss
Short stature motor delay ataxia
Short stature non syndromic
Short stature onychodysplasia facial dysmorphism & hypotrichosis syndrome
Short stature optic atrophy and Pelger Huët anomaly
Short stature severe
Short stature short limbs brachydactyly and hyperlaxity of distal joints
Short stature with accelerated bone maturation
Short stature with microcephaly and distinctive facies
Short stature with mild skeletal dysplasia
Short stature with nonspecific skeletal abnormalities
Short stature with skeletal abnormalities
Short stature with skeletal hand defects
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
Short stature, microcephaly, and endocrine dysfunction
Short stature-brachydactyly-obesity-global developmental delay syndrome
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Short staure & intrauterine growth retardation
Short telomere length
Short telomere syndrome
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 10 without polydactyly
Short-rib thoracic dysplasia 11 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 15 with polydactyly
Short-rib thoracic dysplasia 16 with or without polydactyly
Short-rib thoracic dysplasia 18 with polydactyly
Short-rib thoracic dysplasia 19 with or without polydactyly
Short-rib thoracic dysplasia 20 with polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Short-rib thoracic dysplasia 8 with or without polydactyly
Shoulder girdle weakness
Shprintzen Goldberg syndrome
Shprintzen Goldberg syndrome with aortic aneurysm
Shprintzen-Goldberg syndrome
Shukla-Vernon syndrome
Shwachman Diamond like syndrome
Shwachman Diamond syndrome
Shwachman-Diamond syndrome 1
Shwachman-Diamond syndrome 2
Sialic acid biosynthesis
Sialic acid storage disease
Sialic acid storage disease infantile
Sialic acid storage disease, severe infantile type
Sialic aciduria skeletal myopathy and cardiac myopathy
Sialidosis
Sialidosis 1
Sialidosis 2
Sialidosis type 1
Sialidosis type 2
Sialuria
Sick sinus syndrome
Sick sinus syndrome & atrial fibrillation
Sick sinus syndrome 1
Sick sinus syndrome 2, autosomal dominant
Sick sinus syndrome autosomal recessive
Sick sinus syndrome increased risk
Sickle cell anaemia
Sickling variant
Sideroblastic anaemia
Sideroblastic anaemia B & T cell defects hypogammaglobulinaemia recurrent infections cardiomyopathy & developmental delay
Sideroblastic anaemia and ataxia
Sideroblastic anaemia and myopathy
Sideroblastic anaemia diarrhoea microcephaly & failure to thrive
Sideroblastic anaemia early onset
Sideroblastic anaemia with immunodeficiency fevers & developmental delay
Sideroblastic anemia 1, late-onset
Sideroblastic anemia 2
Sideroblastic anemia 3
Sideroblastic anemia pyridoxine refractory
Siezure disorder mental retardation strabismus
Sifrim Hitz Weiss syndrome
Sifrim-Hitz-Weiss syndrome
Silver Russell syndrome
Silver like syndrome
Silver-Russell syndrome 1
Silver-Russell syndrome 3
Simpson Golabi Behmel syndrome
Simpson-Golabi-Behmel syndrome type 1
Single suture craniosynostosis
Singleton Merten syndrome
Singleton-Merten syndrome 1
Singleton-Merten syndrome 2
Sinoatrial node dysfunction & deafness
Sinoatrial node dysfunction and deafness
Sinus bradycardia
Sinus bradycardia & cognitive disability
Sinus bradycardia & myocardial noncompaction
Sinus bradycardia asymptomatic
Sinus node disease
Sinus node dysfunction
Sinus node dysfunction and atrial flutter
Sinus node dysfunction and atrioventricular block
Sitosterolaemia
Sitosterolemia
Sitosterolemia 1
Sitosterolemia 2
Situs abnormality
Situs ambiguus
Situs inversus and congenital athyroid
Situs inversus and male infertility
Situs inversus and motile cilia defects
Situs inversus totalis & congenital heart disease
Sjoegren syndrome
Sjögren-Larsson syndrome
Sjögren Larsson Syndrome
Sjögren syndrome
Sjögren syndrome with lymphoma
Skeletal & limb malformations renal hypoplasia & craniofacial features
Skeletal abnormalities growth failure atrial septal defect facial dysmorphisms and developmental delays
Skeletal and cardiac muscular dystrophy
Skeletal defects and genital hypoplasia
Skeletal dysplasia
Skeletal dysplasia & peripheral neuropathy
Skeletal dysplasia and brain malformation with calcifying leukoencephalopathy
Skeletal dysplasia and joint laxity
Skeletal dysplasia cataracts and white matter changes
Skeletal dysplasia developmental delay hypotonia facial dysmorphism and absent speech
Skeletal dysplasia dysmorphic features
Skeletal dysplasia foetal
Skeletal dysplasia immune deficiency & developmental delay
Skeletal dysplasia narrow and short thorax no ossification of sacrum and brachycephaly
Skeletal dysplasia osteoporosis and flexion contracture
Skeletal dysplasia perinatal lethal
Skeletal dysplasia speech delay mototr delay learning disability
Skeletal dysplasia with 46 XY gonadal dysgenesis
Skeletal dysplasia with advanced bone age
Skeletal dysplasia with amelogenesis imperfecta
Skeletal dysplasia with cartilage hair hypoplasia
Skeletal dysplasia with multiple joint dislocation
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Skeletal frame size
Skeletal hand defects
Skeletal malformations and hypotonia
Skeletal myopathy
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Skeletal/Limb Abnormalities Lordosis Ptosis Facial dysmorphism Hypertelorism of eye Hypotonia
Skin Cutaneous Melanoma
Skin and hair hypopigmentation
Skin and male cancer
Skin anomalies delayed wound healing night blindness connective tissue abnormalities and hypothyroidism
Skin cancer
Skin cancer non melanoma
Skin creases, congenital symmetric circumferential, 2
Skin folds growth delay & pyloric stenosis
Skin fragility and woolly hair
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skin hypopigmentation dental anomalies body asymmetry and brain MRI anomalies
Skin infections reduced risk
Skin lesions in PXE
Skin pigmentation
Skin sloughing
Skraban-Deardorff syndrome
Sleep disorders reduced risk
Sleeping energy expenditure
Slow acetylation
Slow channel myasthenic syndrome
Slow fetal movements polyhydramnion arthrogryposis
Slowed nerve conduction velocities
Slower APCE cleavage time
Slower HIV 1 disease proression
Slowly progressive cerebellar ataxia
Small cell carcinoma of the ovary hypercalcemic type
Small cell lung carcinoma
Small fiber neuropathy
Small fibre neuropathy
Small for gestational age with isolated short stature
Small patella syndrome
Small vessel disease
Smaller decline in cholesterol synthesis after weight loss
Smith Fineman Myers syndrome
Smith Kingsmore syndrome
Smith Kingsmore syndrome & antiphospholipid syndrome
Smith Lemli Opitz syndrome
Smith Magenis syndrome
Smith Magenis syndrome like disorder
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome
Smith-Magenis Syndrome-like
Smith-Magenis syndrome
Smith-McCort dysplasia 1
Smith-McCort dysplasia 2
Sneddon syndrome
Sneddon's syndrome
Snijders Blok Campeau syndrome
Snijders Blok-Campeau syndrome
Snijders blok-fisher syndrome
Snowflake vitreoretinal degeneration
Snyder Robinson syndrome
Sociosexual behaviour in women
Sodium channel myotonia
Sodium diarrhoea
Sodium taurocholate cotransporting polypeptide deficiency
Sodium valproate induced liver toxicity
Solid pseudopapillary tumours
Solitary median maxillary central incisor
Solitary median maxillary central incisor and pyriform aperture stenosis
Solitary median maxillary central incisor syndrome
Somatostatin analog resistance
Somatotroph adenoma
Somatotropinoma
Sorsby fundus dystrophy
Sortilin deficiency
Sotos like syndrome
Sotos syndrome
Sotos syndrome 1
Sotos syndrome 3
Spasmodic dysphonia
Spasms infantile and bitemporal glucose hypometabolism
Spastic ataxia
Spastic ataxia & eye of the tiger like sign
Spastic ataxia (cellebellar and pyramidal signs)
Spastic ataxia 1
Spastic ataxia 2
Spastic ataxia 4
Spastic ataxia 5
Spastic ataxia 8
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Spastic ataxia Charlevoix Saguenay
Spastic ataxia Charlevoix Saguenay with paroxysmal kinesigenic dyskinesia
Spastic ataxia autosomal recessive
Spastic ataxia neuropathy syndrome
Spastic ataxia progressive and hypomyelination
Spastic ataxia syndrome
Spastic ataxic gait
Spastic ataxic syndrome with peripheral neuropathy
Spastic diplegia
Spastic diplegia and subcortical/periventricular T2 hyperintensities
Spastic diplegia atrial septum defect mild kinetic tremor attention deficit hyperactivity disorder anxiety and scattered subcortical hyperintensities
Spastic diplegia intellectual disability autism spectrum disorder periventricular leukamalacia oesotropia anxiety and behavioural issues
Spastic diplegia right hemisphere polymicrogyria mild ventricle asymmetry and attention deficit hyperactivity disorder
Spastic diplegia seizures autism intellectual disability & behavioural problems
Spastic dystonic diplegia coarctation of the aorta intellectual disability and expressive language disorder
Spastic dystonic diplegia gliosis in thalami and left external capsule epilepsy and high subcortical white matter of parietal lobes and corticospinal tract
Spastic dystonic movement disorder
Spastic dystonic quadriplegia dysplastic corpus callosum delayed myelination and diminished perisylvian volumes
Spastic dystonic quadriplegia periventricular leukamalacia and intellectual disability
Spastic paralysis infantile onset
Spastic paraparesis
Spastic paraparesis & deafness
Spastic paraparesis & intestinal dysmotility
Spastic paraparesis and dystonia
Spastic paraparesis complex
Spastic paraparesis complicated
Spastic paraparesis segmental dystonia intellectual disability and behavioural problems
Spastic paraparesis type 15
Spastic paraparesis with brain calcification
Spastic paraparesis with thin corpus callosum
Spastic paraplegia
Spastic paraplegia & ataxia
Spastic paraplegia & peripheral neuropathy
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 2
Spastic paraplegia 26
Spastic paraplegia 3
Spastic paraplegia 30
Spastic paraplegia 30 & spinocerebellar
Spastic paraplegia 31
Spastic paraplegia 35
Spastic paraplegia 3A
Spastic paraplegia 3A neonatal onset
Spastic paraplegia 4
Spastic paraplegia 43
Spastic paraplegia 45
Spastic paraplegia 46
Spastic paraplegia 48
Spastic paraplegia 5
Spastic paraplegia 5 with sensory ataxia
Spastic paraplegia 51
Spastic paraplegia 58
Spastic paraplegia 59
Spastic paraplegia 5a
Spastic paraplegia 61
Spastic paraplegia 62
Spastic paraplegia 63
Spastic paraplegia 64
Spastic paraplegia 69
Spastic paraplegia 7
Spastic paraplegia 70
Spastic paraplegia 71
Spastic paraplegia 72, autosomal dominant
Spastic paraplegia 81, autosomal recessive
Spastic paraplegia 82, autosomal recessive
Spastic paraplegia 83, autosomal recessive
Spastic paraplegia 84, autosomal recessive
Spastic paraplegia Speech delay Learning disability
Spastic paraplegia adolescent onset
Spastic paraplegia adult onset autosomal dominant
Spastic paraplegia and cerebellar ataxia
Spastic paraplegia and parkinsonism
Spastic paraplegia and sensory loss
Spastic paraplegia autosomal dominant
Spastic paraplegia autosomal recessive
Spastic paraplegia childhood onset
Spastic paraplegia complex
Spastic paraplegia complicated
Spastic paraplegia early onset progressive
Spastic paraplegia failure to thrive
Spastic paraplegia infantile ascending
Spastic paraplegia modifier of
Spastic paraplegia non ataxic and peripheral neuropathy
Spastic paraplegia non progressive
Spastic paraplegia optic atrophy and neuropathy
Spastic paraplegia with activity induced dystonia & motor regression
Spastic paraplegia with cerebellar atrophy and mental retardation
Spastic paraplegia with dysphonia
Spastic paraplegia with progressive CNS involvement
Spastic paraplegia with thin corpus callosum
Spastic paraplegia with thin corpus callosum atypical
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic paraplegia/axonal neuropathy
Spastic paresis progressive
Spastic quadriplegia & mental retardation
Spastic quadriplegia diminished cerebral volumes with delayed myelination global developmental delay microcephaly and epilepsy
Spastic quadriplegia pyramidal dysfunction fasciculation and muscular atrophy
Spastic tetraplegia and axial hypotonia, progressive
Spastic tetraplegia dystonia joint contracture feeding difficulty and developmental delay
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Spasticity
Spasticity Microcephaly Gross motor delay Hypotonia Speech delay
Spasticity and sensorineural hearing loss
Spasticity hypotonia and developmental delay
Spasticity-ataxia-gait anomalies syndrome
Specific granule deficiency 1
Specific language impairment
Specific language impairment increased risk
Spectrin variant
Speech & language disorder
Speech and mild motor delay
Speech defect abnormal gait hypotonia and cataracts
Speech delay ADHD Seizures Elevated MMA
Speech delay Developmental regression Spasticity Muscle weakness
Speech delay Intellectual disability ADHD Strabismus
Speech delay Intellectual disability Ataxia Seizures Cerebral atrophy
Speech delay Learning disability Developmental regression Autism Stereotypic behaviors
Speech delay and microcephaly
Speech delay and spastic paraplegia
Speech delay autism spectrum disorder seizures familial epilepsy
Speech delay hyperactivity and dysmorphic facial features
Speech delay intellectual disability autistic spectrum disorder Autistic features Prematurity Oligohydramnios Obesity
Speech delay intellectual disability hearing loss seizures
Speech delay intellectual disability learning disability autism spectrum disorder
Speech delay intellectual disability learning disability seizures
Speech delay intellectual disability motor delay behavioural problems and autism
Speech delay obsessive compulsive disorder ADHD white matter disease and periventricular leukomalacia
Speech delay seizures
Speech regression focal seizures during sleep
Sperm egg fusion disorder
Sperm immotility
Spermatogenesis failure
Spermatogenesis maturation arrest
Spermatogenic failure
Spermatogenic failure 11
Spermatogenic failure 13
Spermatogenic failure 16
Spermatogenic failure 17
Spermatogenic failure 18
Spermatogenic failure 19
Spermatogenic failure 20
Spermatogenic failure 21
Spermatogenic failure 22
Spermatogenic failure 23
Spermatogenic failure 27
Spermatogenic failure 3
Spermatogenic failure 36
Spermatogenic failure 37
Spermatogenic failure 38
Spermatogenic failure 39
Spermatogenic failure 44
Spermatogenic failure 45
Spermatogenic failure 46
Spermatogenic failure 47
Spermatogenic failure 53
Spermatogenic failure 54
Spermatogenic failure 55
Spermatogenic failure 56
Spermatogenic failure 57
Spermatogenic failure 64
Spermatogenic failure 65
Spermatogenic failure 68
Spermatogenic failure 8
Spermatogenic failure 9
Spermatogenic failure, X-linked, 2
Spermatogenic failure, X-linked, 3
Spherocytosis
Spherophakia high myopia shallow anterior chambers & distinct facial features
Sphingolipid activator protein 1 deficiency
Sphingomyelin/cholesterol lipidosis
Spina bifida
Spina bifida with severe myelomeningocele
Spinal deformities
Spinal extradural arachnoid cyst
Spinal fracture ventral fissure introversion and left foot polydactyly
Spinal motor neuropathy
Spinal muscular atrophy
Spinal muscular atrophy & cerebellar hypoplasia
Spinal muscular atrophy X linked
Spinal muscular atrophy X linked infantile
Spinal muscular atrophy and mitochondrial myopathy
Spinal muscular atrophy associated with progressive myoclonic epilepsy
Spinal muscular atrophy autosomal dominant
Spinal muscular atrophy distal
Spinal muscular atrophy distal X linked 3
Spinal muscular atrophy distal type 1
Spinal muscular atrophy infantile onset
Spinal muscular atrophy like disorder with neuropathy cerebellar atrophy and diaphragmatic paralysis
Spinal muscular atrophy lower extremity predominant
Spinal muscular atrophy lower extremity predominant 2
Spinal muscular atrophy modifier of
Spinal muscular atrophy type III
Spinal muscular atrophy with respiratory distress 1
Spinal muscular atrophy with upper motor neuron features
Spinal muscular atrophy, infantile, James type
Spinal muscular atrophy, lower extremity-predominant, 2, AD
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Spinal muscular atrophy, type II
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular dystrophy with respiratory distress
Spine bone mineral density reduced in postmenopausal women
Spinocerebellar ataxia
Spinocerebellar ataxia & axonal neuropathy
Spinocerebellar ataxia & erythrokeratodermia
Spinocerebellar ataxia / Gillespie syndrome
Spinocerebellar ataxia 1
Spinocerebellar ataxia 12 Autosomal recessive
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 late onset
Spinocerebellar ataxia 15
Spinocerebellar ataxia 15/29
Spinocerebellar ataxia 16
Spinocerebellar ataxia 19
Spinocerebellar ataxia 21
Spinocerebellar ataxia 22
Spinocerebellar ataxia 23
Spinocerebellar ataxia 26
Spinocerebellar ataxia 28
Spinocerebellar ataxia 28 / spastic ataxia 5
Spinocerebellar ataxia 29
Spinocerebellar ataxia 31
Spinocerebellar ataxia 35
Spinocerebellar ataxia 38
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Spinocerebellar ataxia 43
Spinocerebellar ataxia 44
Spinocerebellar ataxia 47
Spinocerebellar ataxia 48
Spinocerebellar ataxia 5
Spinocerebellar ataxia 5 infantile onset
Spinocerebellar ataxia 6
Spinocerebellar ataxia 7
Spinocerebellar ataxia adult onset
Spinocerebellar ataxia autosomal recessive
Spinocerebellar ataxia childhood onset and stroke like episodes
Spinocerebellar ataxia congenital nonprogressive
Spinocerebellar ataxia hearing loss optic atrophy peripheral neuropathy & hypergonadotropic hypogonadism
Spinocerebellar ataxia infantile onset
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 16
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 35
Spinocerebellar ataxia type 38
Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 41
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 5
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with axonal neuropathy
Spinocerebellar ataxia with blindness & deafness type 2
Spinocerebellar ataxia with neuropathy 43
Spinocerebellar ataxia with psychomotor retardation
Spinocerebellar ataxia, X-linked
Spinocerebellar ataxia, autosomal recessive 22
Spinocerebellar ataxia, autosomal recessive 24
Spinocerebellar ataxia, autosomal recessive 25
Spinocerebellar ataxia, autosomal recessive 26
Spinocerebellar ataxia, autosomal recessive 30
Spinocerebellar ataxia, autosomal recessive 31
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Spinocerebral dysfunction
Splenic epidermoid cyst
Splenomegaly
Split foot malformation
Split hand-foot malformation 1
Split hand-foot malformation 1 with sensorineural hearing loss
Split hand-foot malformation 4
Split hand-foot malformation 6
Split hand/foot malformation
Split hand/foot malformation 1
Split hand/foot malformation with Silver Russell syndrome
Split hand/foot malformation with hypodontia
Sponastrime dysplasia
Spondylarthopathy
Spondylarthopathy with brachydactyly
Spondylo epi metaphyseal dysplasia
Spondylo megaepiphyseal metaphyseal dysplasia
Spondylo meta epiphyseal dysplasia short limb hand type
Spondylo ocular syndrome
Spondylo-ocular syndrome
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis
Spondylocostal dysostosis 1, autosomal recessive
Spondylocostal dysostosis 2, autosomal recessive
Spondylocostal dysostosis 3, autosomal recessive
Spondylocostal dysostosis 4, autosomal recessive
Spondylodysplastic dysplasia
Spondylodysplastic dysplasia Megarbane Dagher Melki type
Spondyloenchondrodysplasia
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Stanescu
Spondyloepimetaphyseal dysplasia Strudwick
Spondyloepimetaphyseal dysplasia X linked
Spondyloepimetaphyseal dysplasia congenita
Spondyloepimetaphyseal dysplasia cutis laxa and osteoporosis
Spondyloepimetaphyseal dysplasia progressive
Spondyloepimetaphyseal dysplasia with corner fractures
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Spondyloepimetaphyseal dysplasia with large epiphyses
Spondyloepimetaphyseal dysplasia with mental retardation
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with short stature
Spondyloepimetaphyseal dysplasia, Bieganski type
Spondyloepimetaphyseal dysplasia, Genevieve type
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Spondyloepimetaphyseal dysplasia, Krakow type
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, di rocco type
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia / COL2A1 related dysplasia
Spondyloepiphyseal dysplasia Kimberley type
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia Omani type
Spondyloepiphyseal dysplasia Omani type with cardiac involvement
Spondyloepiphyseal dysplasia and humerospinal dysostosis
Spondyloepiphyseal dysplasia atypical
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda and arthropathy
Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia, Stanescu type
Spondyloepiphyseal dysplasia, kondo-fu type
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia axial
Spondylometaphyseal dysplasia - Sutcliffe type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia Kozlowski type
Spondylometaphyseal dysplasia Kozlowski type / brachyolmia
Spondylometaphyseal dysplasia anadysplasia like
Spondylometaphyseal dysplasia with cone rod dystrophy
Spondylometaphyseal dysplasia with corneal dystrophy & developmental delay
Spondylometaphyseal dysplasia with corner fractures
Spondylometaphyseal dysplasia with hypogammaglobulinaemia and neutropaenia
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondyloperipheral dysplasia-short ulna syndrome
Spongiform encephalopathy familial
Spongiform encephalopathy with neuropsychiatric features
Spongy degeneration of central nervous system
Spontaneous cervical artery dissections
Spontaneous coronary artery dissection
Sporadic ataxia
Sporadic hemiplegic migraine
Sporotrichosis
Squamous cell carcinoma
Squamous cell carcinoma of head & neck
Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Ss blood group variation
Stapes ankylosis with broad thumb and toes
Stargardt disease
Stargardt disease 1
Stargardt disease 2/3
Stargardt disease 4
Stargardt disease 4 like macular dystrophy
Stargardt disease and macular degeneration
Stargardt disease late onset
Stargardt disease reduced risk
Stargardt macular dystrophy
Static encephalopathy and seizures
Static encephalopathy of childhood with neurodegeneration in adulthood
Statin intolerance
Stationary night blindness
Stationary night blindness Oguchi type
Stationary night blindness autosomal dominant congenital
Stationary night blindness autosomal recessive
Stationary night blindness complete congenital
Stationary night blindness congenital
Status dystonicus
Status epilepticus
Status epilepticus focal
Status epilepticus generalised tonic clonic & myoclonic seizures
Steatocystoma multiplex
Steel syndrome
Steppage gait foot drop
Sterile brain inflammation
Steroid 11 beta hydroxylase deficiency
Steroid 11 beta hydroxylase deficiency non classic
Steroid 11 beta hydroxylase deficiency with severe hypokalemia
Steroid 17 alpha hydroxylase deficiency
Steroid 5 alpha reductase deficiency
Steroid induced posterior subcapsular cataract early onset
Steroid resistant nephrotic syndrome with mesangial proliferation
Steroid-resistant nephrotic syndrome
Sterol C4 methyl oxidase deficiency
Stickler like syndrome
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type I, nonsyndromic ocular
Stiff skin syndrome
Stiff skin syndrome with ectopia lentis
Stillbirth
Stimulator of interferon genes (STING) associated vasculopathy with onset in infancy
Stomach adenocarcinoma
Stomatocytosis
Stomatocytosis / spherocytosis with erythrocytosis
Stomatocytosis dehydrated
Stomatocytosis overhydrated
Stormorken syndrome
Strabismus
Stress fracture
Stress induced cardiomyopathy
Striatal degeneration, autosomal dominant 2
Striate palmoplantar keratoderma
Striatonigral degeneration childhood onset
Striatonigral degeneration childhood onset with retinitis pigmentosa
Striatonigral degeneration infantile
Striatonigral degeneration, childhood-onset
Stridor and cardiomyopathy
Stroke
Stroke axonal neuropathy & haemolysis
Stroke childhood onset
Stroke early onset
Stroke early onset & vasculopathy
Stroke increased risk
Stroke paediatic following bone marrow transplant
Stroke protection against
Stroke recurrence
Stroke reduced risk in sickle cell anaemia
Stromal interaction molecule 1 deficiency
Structural anomaly
Structural brain anomalies with impaired intellectual development and craniosynostosis
Structural heart defects and renal anomalies syndrome
Sturge Weber syndrome
Sturge-Weber syndrome
Stuttering
Stuve Wiedemann syndrome
Stüve-Wiedemann syndrome
Subacute myopathy
Subarachnoid haemorrhage
Subclinical leukodystrophy & male infertility
Subcortical band heterotopia
Subcortical dementia and parkinsonism
Subcortical laminar heterotopia, X-linked
Subcortical myoclonus & seizures
Subcortical vascular cognitive impairment
Subcutaneous panniculitis like T cell lymphomas with haemophagocytic lymphohistiocytic syndrome
Substance dependence
Substantia nigra hyperechogenicity in Parkinsonism
Succinate CoA ligase deficiency
Succinate-semialdehyde dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency
Succinyl CoA:3 ketoacid CoA transferase deficiency
Succinyl coenzyme A synthetase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Sucrase isomaltase deficiency
Sucrase-isomaltase deficiency
Sudden adult death syndrome
Sudden arrhythmic death syndrome
Sudden cardiac arrest
Sudden cardiac arrest in coronary artery disease
Sudden cardiac death
Sudden cardiac death in J wave syndrome
Sudden cardiac death in acute myocardial infarction
Sudden cardiac failure, alcohol-induced
Sudden cardiac failure, infantile
Sudden death in the young
Sudden infant death
Sudden infant death increased risk
Sudden infant death syndrome
Sudden nocturnal death
Sudden unexpected death
Sudden unexpected death in epilepsy
Sudden unexpected death in infancy
Sudden unexpected death in infancy/childhood
Sudden unexpected death with negative autopsy
Sudden unexpected nocturnal death
Sudden unexpected nocturnal death reduced risk
Sudden unexplained death
Sudden unexplained death in childhood
Sudden unexplained death in epilepsy
Sudden unexplained death in infancy
Sudden unexplained death in the young
Sudden unexplained death in the young exertion related
Sudden unexplained death in young
Sudden unexplained death syndrome
Sudden unexplained nocturnal death
Sudden unexplained nocturnal death syndrome
Suicide
Sulfide quinone oxidoreductase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Sulphite oxidase deficiency
Superior coloboma
Supernumary premolars
Superoxide dismutase, elevated extracellular
Supranuclear palsy progressive
Supravalvar aortic stenosis
Supravalvular aortic stenosis
Supraventricular tachycardias cardiac conduction disease and cardiomyopathy
Surfactant deficiency
Surfactant metabolism dysfunction 2
Surfactant metabolism dysfunction pulmonary 3
Surfactant metabolism dysfunction, pulmonary, 2
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant protein B deficiency
Surfactant protein B deficiency partial
Surfactant protein C deficiency
Susceptibility to infections
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Suspicion of CHARGE syndrome because of ASD Failure to thrive motor delay facial dysmorphism
Sveinsson chorioretinal atrophy
Sweeney Cox syndrome
Sweeney-Cox syndrome
Symmetrical acral keratoderma
Symmetrical dyschromatosis of extremities
Symphalangism
Symphalangism and tarsal coalitions
Symphalangism proximal
Symphalangism proximal & conductive hearing loss
Symphalangism, proximal, 1B
Symphalangism-brachydactyly syndrome
Symptomatic epilepsy & skull dysplasia
Syndactyly V
Syndactyly autosomal dominant
Syndactyly isolated with fusion of third and fourth fingers
Syndactyly type 1c
Syndactyly type 3
Syndactyly type 5
Syndactyly undescended testes delayed motor milestones & mental retardation
Syndactyly/oligodactyly and kidney abnormalities
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Syndrome with microcephaly as major feature
Syndromic X-linked intellectual disability 14
Syndromic X-linked intellectual disability 34
Syndromic X-linked intellectual disability 94
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Najm type
Syndromic X-linked intellectual disability Nascimento type
Syndromic X-linked intellectual disability Raymond type
Syndromic X-linked intellectual disability Siderius type
Syndromic X-linked intellectual disability Snyder type
Syndromic deafness
Syndromic deafness microtia & microdontia
Syndromic diabetes
Syndromic intellectual disability
Syndromic microphthalmia type 5
Syndromic neutropaenia with Shwachman Diamond like features
Syndromic retinitis pigmentosa
Synergistic convergance with scoliosis
Synesthesia
Synovitis granulomatous with uveitis
Synpolydactyly
Synpolydactyly type 1
Synpolydactyly with metacarpal to carpal transformation
Systemic autoinflammatory disease
Systemic capillary leak syndrome
Systemic juvenile idiopathic arthritis & recurrent macrophage activation syndrome
Systemic lupus erythematosus
Systemic lupus erythematosus & brachytelephalangic chondrodysplasia punctata
Systemic lupus erythematosus decreased susceptibility
Systemic lupus erythematosus early onset
Systemic lupus erythematosus increased risk
Systemic lupus erythematosus protection against assoc
Systemic lupus erythematosus protection against association
Systemic lupus erythematosus susceptibility
Systemic lupus erythematosus susceptibility association
Systemic lupus erythematosus susceptibility to
Systemic mast cell disease
Systemic sclerosis
Systemic sclerosis protection against
Systemic sclerosis with autoimmune thyroiditis
Systemic vasculitis
Sézary syndrome
T B+NK SCID
T and B cell dysfunction
T cell activation
T cell deficiency CD4 lymphopaenia and interstitial lung disease
T cell immunodeficiency
T cell lymphopaenia
T cell senescence & immunodeficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-cell acute lymphoblastic leukemia
T-cell prolymphocytic leukemia
TAFRO syndrome
TANGO2 related disorder
TARDBP-related frontotemporal dementia
TCF12-related craniosynostosis
TELO2-related intellectual disability-neurodevelopmental disorder
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
TK2 deficiency
TLR3 deficiency
TMEM165-CDG
TMEM199-CDG
TNF receptor binding, altered
TNF receptor-associated periodic fever syndrome (TRAPS)
TP63 related disorder
TP63-Related Spectrum Disorders
TPMT deficiency
TPP1 enzyme deficiency
TRAF3 deficiency
TRIF deficiency
TRPV4-related bone disorder
TTC19 deficiency
TWIST1-related craniosynostosis
Tachycardia bradycardia syndrome and atrial fibrillation
Takotsubo (stress) cardiomyopathy
Talipes equinovarus
Talipes equinovarus atrial septal defect Robin sequence and persistent left superior vena cava syndrome
Tall stature
Tall stature and arachnodactyly
Tall stature archnodactyly hyperextensible joints hypertelorism and bfid uvula
Tall stature lateral tibial deviation scoliosis hearing impairment camptodactyly and arachnodactyly
Tall stature macrocephaly intellectual disability & facial features
Tall stature scoliosis & macrodactyly of great toes
Tall stature-intellectual disability-facial dysmorphism syndrome
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Tamm Horsfall protein levels
Tangier disease
Tarsal-carpal coalition syndrome
Tarsal/carpal coalition syndrome
Tatton Brown Rahman syndrome
Taurodontism microdontia and dens invaginatus
Tay Sachs disease
Tay Sachs disease late onset
Tay-Sachs disease
Tay-Sachs disease, B1 variant
Tay-Sachs disease, variant AB
Tay-sachs disease, juvenile
Teebi hypertelorism syndrome
Teebi hypertelorism syndrome 1
Teebi hypertelorism syndrome 2
Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 5
Telomere length
Telomere phenotypes
Telomeropathy
Temperature-sensitive oculocutaneous albinism type 1
Temple Baraister syndrome
Temple-Baraitser syndrome
Temporal lobe epilepsy
Temporomandibular disorder
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tenascin X deficiency
Tenorio syndrome
Teratospermia
Teratozoospermia
Teratozoospermia severe complete
Terminal osseous dysplasia
Tessadori-van Haaften neurodevelopmental syndrome 1
Tessadori-van Haaften neurodevelopmental syndrome 2
Testicular Germ Cell Tumors
Testicular anomalies with or without congenital heart disease
Testicular cancer
Testicular dysgenesis
Testicular dysgenesis syndrome
Testicular germ cell tumour
Testicular regression syndrome
Testicular torsion neonatal
Testosterone 17-beta-dehydrogenase deficiency
Testosterone levels
Tetrahydrobiopterin deficiency
Tetralogy of Fallot
Tetralogy of Fallot and intrauterine growth restriction
Tetralogy of Fallot failure to thrive developmental delay speech delay facial dysmorphism external ear malformations
Tetralogy of Fallot failure to thrive microcephaly intellectual disability
Tetralogy of Fallot with atrial septum defect
Tetralogy of Fallot with cleft lip/palate
Tetralogy of Fallot with major aortopulmonary collateral arteries
Tetralogy of Fallot with other cardiac abnormalities
Tetralogy of Fallot with patent forman ovale
Tetralogy of Fallot with patent forman ovale and patent ductus arteriosus
Teunissen Cremers syndrome
Thalassaemia
Thanatophoric dwarfism
Thanatophoric dysplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thanatophoric dysplasia, type 2
Therapy related myeloid neoplasms
Thiamine metabolism dysfunction syndrome
Thiamine metabolism dysfunction syndrome 4
Thiamine pyrophosphokinase deficiency
Thiel-Behnke corneal dystrophy
Thin basement membrane disease
Thin basement membrane nephropathy
Thin glomerular basement membrane
Thiopurine S methyltransferase variant
Thiopurine induced leukopaenia
Thiopurine induced toxicity
Thiopurine intolerance
Third degree atrioventricular block
Thoracic aortic aneurysm
Thoracic aortic aneurysm and aortic dissection
Thoracic aortic aneurysm and patent ductus arteriosus
Thoracic aortic aneurysm or dissection
Thoracic aortic aneurysm phenotype modifier
Thoracic aortic aneurysm with aortic regurgitation
Thoracic aortic aneurysms
Thoracic aortic aneurysms & dissections
Thoracic aortic aneurysms and dissections
Thoracic aortic aneurysms and dissections and patent ductus arteriosus
Thoracic aortic disease & coronary artery disease
Thoracic aortic disease & strokes
Thoracic aortic disease coronary artery disease & strokes
Thoracic aortic disorder
Thoracic aortic disorder nonsyndromic
Thoracic aortic disorder syndromic
Thoracic ossification of ligamentum flavum long regional form
Thoracic ossification of the posterior longitudinal ligament
Thromboasthenia like phenotype
Thrombocythaemia essential
Thrombocythemia 1
Thrombocythemia 2
Thrombocythemia 3
Thrombocytopaenia
Thrombocytopaenia & haematologic malignancy
Thrombocytopaenia & myeloid malignancy
Thrombocytopaenia 1
Thrombocytopaenia 2
Thrombocytopaenia X linked with dyserythropoietic anaemia
Thrombocytopaenia early onset
Thrombocytopaenia myelofibrosis bleeding & bone pathologies
Thrombocytopaenia with excessive bleeding and platelet secretion defects
Thrombocytopaenia with multiple malformations microcephaly learning difficulties and dysmorphism
Thrombocytopathy
Thrombocytopenia
Thrombocytopenia 1
Thrombocytopenia 4
Thrombocytopenia 5
Thrombocytopenia 6
Thrombocytopenia 7
Thrombocytopenia, X-linked, intermittent
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Thrombocytopenia, X-linked, without dyserythropoietic anemia
Thrombocytosis
Thromboembolic disease
Thrombomodulin-related bleeding disorder
Thrombophilia
Thrombophilia due to activated protein C resistance
Thrombophilia due to protein C deficiency, autosomal dominant
Thrombophilia due to protein C deficiency, autosomal recessive
Thrombophilia due to protein S deficiency, autosomal dominant
Thrombophilia due to protein S deficiency, autosomal recessive
Thrombophilia due to thrombin defect
Thrombophilia severe
Thrombophilia, X-linked, due to factor 9 defect
Thrombosis
Thrombosis increased risk
Thrombosis venous
Thrombotic microangiopathy
Thrombotic microangiopathy following transplantation
Thrombotic thrombocytopaenic purpura
Thrombotic thrombocytopaenic purpura pregnancy onset
Thrombotic thrombocytopaenic purpura renal involvement
Thrombotic thrombocytopenic purpura
Thromboxane A2 receptor deficiency
Thumb deformity
Thymoma
Thyroglobulin synthesis defect
Thyroid adenoma follicular
Thyroid agenesis
Thyroid and breast cancer susceptibility to
Thyroid cancer
Thyroid cancer non medullary
Thyroid cancer risk
Thyroid cancer, nonmedullary, 2
Thyroid carcinoma
Thyroid carcinoma medullary
Thyroid carcinoma medullary late onset
Thyroid carcinoma non medullary
Thyroid dysfunction and respiratory failure
Thyroid dysgenesis
Thyroid dyshormonogenesis
Thyroid dyshormonogenesis 6
Thyroid hemiagenesis
Thyroid hormone resistance
Thyroid hormone resistance atypical
Thyroid hormone resistance modifier
Thyroid hormone resistance pituitary
Thyroid hormone resistance syndrome
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hypoplasia
Thyroid peroxidase deficiency
Thyroid stimulating hormone deficiency
Thyroid stimulating hormone resistance
Thyroid stimulating hormone resistance nonclassic
Thyroid tumor
Thyroid tumour
Thyroid tumours
Thyrotoxic hypokalaemic periodic paralysis
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 2
Thyrotoxicosis gestational
Thyroxine binding globulin deficiency
Thyroxine binding globulin deficiency association
Thyroxine binding globulin deficiency partial
Thyroxine binding globulin slow variant
Thyroxine-binding globulin deficiency, partial
TiRAP deficiency
Tibial muscular dystrophy
Tietz syndrome
Tietz/Waardenburg type IIA syndrome
Timothy like syndrome
Timothy syndrome
Timothy syndrome 2
Tinnitus
Tissue response in radiotherapy
Titinopathy
Toe syndactyly
Toe walking
Tolchin-Le Caignec syndrome
Tonic clonic & focal seizures
Tonic clonic seizures generalised
Tonsillar hypertrophy and sarcoidosis
Tooth agenesis
Tooth agenesis non syndromic
Tooth agenesis, selective, 1
Tooth agenesis, selective, 3
Tooth agenesis, selective, 7
Tooth agenesis, selective, 8
Tooth agenesis, selective, 9
Tooth agenesis, selective, X-linked, 1
Torg Winchester syndrome
Torg syndrome
Torg syndrome with cardiac malformation
Toriello Carey syndrome
Torsades de Pointes
Torsades de Pointes drug induced
Torsion dystonia 2
Torsion dystonia 4
Torsion dystonia 6
Torsion dystonia early onset
Torsion dystonia phenotype modifier
Total anomalous pulmonary venous connection
Total anomalous pulmonary venous connection susceptibility to
Total anomalous pulmonary venous drainage
Total anomalous pulmonary venous return
Total body bone mineral density association
Total cholesterol and LDL cholesterol levels
Total cholesterol levels
Total iodide organification defect
Total loss of function
Tourette syndrome
Townes Brocks syndrome
Tracheoesophageal fistula
Trachomatous trichiasis infection
Transaldolase deficiency
Transaldolase deficiency partial
Transcobalamin I deficiency mild
Transferrin variant
Transfusion related acute lung injury
Transient bullous dermolysis
Transient bullous dermolysis of the newborn
Transient infantile hypertriglyceridaemia
Transient infantile hypertriglyceridemia and hepatosteatosis
Transient neonatal cholestasis
Transient neonatal hyperparathyroidism
Transitional cell carcinoma of the bladder
Transketolase deficiency
Transposition of the great arteries
Transposition of the great arteries & Neurodevelopmental disorder
Transposition of the great arteries and ventricular septal defect
Transposition of the great arteries with extra cardiac anomalies and neurodevelopmental disorder
Transposition of the great arteries with extracardiac anomalies
Transposition of the great vessel
Transposition of the great vessel with ventricular septal defect and pulmonary stenosis
Treacher Collins syndrome
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Treacher Collins syndrome/Hypomyelinating leukodystrophy 11
Treacher collins syndrome 4
Treacher-Collins syndrome 1
Tremor
Tremor ataxia with central hypomyelinating leukodystrophy
Tremor, hereditary essential, 5
Tremor, hereditary essential, 6
Trichilemmal cysts
Tricho dento osseous syndrome
Tricho hepato enteric syndrome with ileal atresia & inflammatory bowel disease very early onset
Tricho rhino phalangeal syndrome
Tricho rhino phalangeal syndrome type I
Tricho rhino phalangeal syndrome type III
Tricho rhino phalangeal syndrome with supernumerary teeth
Tricho-dento-osseous syndrome
Trichoepithelioma multiple familial
Trichohepatoenteric syndrome
Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome 2
Trichomegaly
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichothiodystrophy
Trichothiodystrophy 1, photosensitive
Trichothiodystrophy 2, photosensitive
Trichothiodystrophy 3, photosensitive
Trichothiodystrophy 6, nonphotosensitive
Trichothiodystrophy 7, nonphotosensitive
Trichothiodystrophy 8, nonphotosensitive
Trichothiodystrophy 9, nonphotosensitive
Trichothiodystrophy nonphotosensitive
Trichothiodystrophy photosensitive
Trichothiodystrophy/Xeroderma pigmentosum/Cockayne syndrome
Trichotillomania
Trichromacy deutan
Tricuspid atresia
Tricuspid atresia and transposition of the great arteries
Triglyceride levels
Triglyceride storage disease with ichthyosis
Triglycerides in very large HDL
Trimethylaminuria
Trimethylaminuria and hypothyroidism
Triokinase and FMN cyclase deficiency syndrome
Triosephosphate isomerase deficiency
Tripeptidyl peptidase II deficiency
Triphalangeal thumbs and preaxial polydactyly
Triple A syndrome
Trismus pseudocamptodactyly syndrome
Tropical calcific pancreatitis
Tropical chronic pancreatitis
Troyer syndrome
Truncal ataxia hypotonia developmental delay & hearing loss
Truncal hypotonia nystagmus sensorineural deafness and lower limb hypertonia
Truncal obesity
Truncus arteriosus
Trypanosome infection
Tuberculosis
Tuberculosis susceptibility to
Tuberous sclerosis
Tuberous sclerosis 1
Tuberous sclerosis 2
Tuberous sclerosis and lymphangiomyomatosis
Tuberous sclerosis complex
Tuberous sclerosis syndrome
Tuberous sclerosis with renal angiomyolipomas
Tubular aggregate myopathy
Tubular aggregate myopathy and miosis
Tubular aggregate myopathyr/Stormorken disease
Tubular myopathy & miosis
Tubulinopathies
Tubulinopathy
Tubulointerstitial kidney disease
Tubulointerstitial kidney disease autosomal dominant
Tubulointerstitial nephritis
Tubulointerstitial nephropathy and hyperuricaemia
Tumoral calcinosis normal kidney function
Tumoral calcinosis, hyperphosphatemic, familial, 1
Tumoral calcinosis, hyperphosphatemic, familial, 2
Tumoral calcinosis, hyperphosphatemic, familial, 3
Tumour size reduced in papillary thyorid carcinoma
Tumoural calcinosis
Tumoural calcinosis hyperphosphataemic familial
Tumoural calcinosis normophosphataemic
Tumoural calcinosis with hyperphosphataemia
Turcot syndrome
Turnpenny-fry syndrome
Two IUFD with congenital anomalies
Two deceased infants with brain atrophy
Tylosis oesophageal cancer
Type 1 diabetes mellitus 2
Type 1 diabetes mellitus 20
Type 1 predominance plus myopathy
Type 2 diabetes
Type 2 diabetes decreased risk
Type 2 diabetes increased risk
Type 2 diabetes mellitus
Type IV short rib polydactyly syndrome
Tyrosinaemia 1
Tyrosinaemia 2
Tyrosinaemia 3
Tyrosinase deficiency
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Tyrosine hydroxylase deficiency
Tyrosine kinase deficiency
Tyrosine kinase inhibitor resistance
Tyrosine kinase inhibitor response
Tyrosinemia type I
Tyrosinemia type II
UDPglucose-4-epimerase deficiency
UV induced skin damage vulnerability to
UV sensitive syndrome
UV-sensitive syndrome 2
UV-sensitive syndrome 3
Ubiquinone deficiency with cerebellar ataxia
Ulcerative colitis
Ulcerative colitis Increased risk
Ulcerative colitis early onset
Ulcerative colitis increased risk
Ulcerative colitis reduced risk
Ulcerative colitis with colectomy reduced risk
Ulcerative skin lesions
Ullrich congenital muscular dystrophy
Ullrich congenital muscular dystrophy / Bethlem myopathy
Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1, autosomal dominant
Ullrich congenital muscular dystrophy 2
Ullrich congenital muscular dystrophy intermediate
Ulnar and fibula absence with severe limb deficiency
Ulnar mammary like syndrome
Ulnar mammary syndrome
Ulnar-mammary syndrome
Ultrarapid metaboliser
Ultraviolet sensitive syndrome
Uncombable hair like syndrome
Uncombable hair syndrome
Uncombable hair syndrome 1
Uner Tan syndrome
Uneven spine arrangement short limbs bilateral foot inversion and ventricular septal defect
Unexplained cardiac arrest
Unilateral duplex kidney with upper dysplastic kidney & bilateral hydronephrosis
Unilateral renal agenesis
Unipolar major depression
Unknown
Unusual progressive limb girdle muscular dystrophy 2A
Unverricht-Lundborg syndrome
Upper & lower motor neuron disease
Upper aerodigestive tract cancer
Upper motor neuron syndrome
Upper motor neuron syndrome adult onset
Upshaw Schulman syndrome
Upshaw-Schulman syndrome
Ureteropelvic junction obstruction
Ureteropelvic junction obstruction / renal hypodysplasia
Ureteropelvic junction obstruction and reduced renal function
Urethral atresia
Uric acid concentration
Urinary bladder carcinoma
Urinary bladder disease
Urinary pH
Urinary tract anomalies
Urinary tract malformation
Urocanate hydratase deficiency
Urocanic aciduria
Urofacial syndrome
Urofacial syndrome type 1
Urogenital adysplasia
Urogenital adysplasia & Mayer Rokitansky Kuster Hauser syndrome
Uromodulin associated kidney disease
Uromodulin associated kidney disease autosomal dominant
Urticaria chronic and angioedema
Usher syndrome
Usher syndrome 1
Usher syndrome 1 modifier of
Usher syndrome 1b
Usher syndrome 1c
Usher syndrome 1d
Usher syndrome 1f
Usher syndrome 1g
Usher syndrome 1j
Usher syndrome 2
Usher syndrome 2 atypical
Usher syndrome 2A
Usher syndrome 2a
Usher syndrome 2c
Usher syndrome 3
Usher syndrome 3a
Usher syndrome atypical
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome type 1D
Usher syndrome type 1G
Usher syndrome type 1J
Usher syndrome type 2
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 2D
Usher syndrome type 3
Usher syndrome type 3A
Usher syndrome, type 4
Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
Uterine Corpusndometrial Carcinoma
Uterine carcinoma
Uterine carcinosarcoma
Uterine cervical cancer increased risk
Uterine corpus endometrial carcinoma
Uterine fibroids
Uterine leiomyomas early onset
Uterine stromal sarcoma
Uveal coloboma
Uveal melanoma
Uveal melanoma peritoneal mesothelioma with primary biliary tract adenocarcinoma
Uveal/cutaneous melanoma
Uveitis
VACTERL
VARS2 related mitochondrial disease
VATER association
VATER/VACTERL association with CNS malformations
VATER/VACTERL phenotype
VATER/VACTERL phenotype with brain malformations
VEXAS syndrome
VISS SYNDROME
VWF binding
VWS PPS spectrum disorder with renal aplasia
Valine levels
Van Den Ende Gupta syndrome
Van Maldergem syndrome
Van Maldergem syndrome 1
Van Maldergem syndrome 2
Van Maldergem syndrome with endocrine abnormalities
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van der Woude syndrome / popliteal pterygium syndrome
Van der Woude syndrome 1
Van der Woude syndrome 2
Vanishing testis
Vanishing white matter disease
Vanishing white matter disease & diabetic ketoacidosis
Vanishing white matter disease & peripheral neuropathy
Vanishing white matter disease adult onset
Vanishing white matter disease with adrenoleukodystrophy
Vanishing white matter disease with delayed development & cataracts
Vanishing white matter disease with epilepsy hypopituitarism & prolonged life span
Vanishing white matter disease with menometrorrhagia
Variant CD45 expression
Varicella zoster virus CNS vasculitis
Varicella zoster virus infection
Variegate porphyria
Variegate porphyria, homozygous
Variegated aneuploidy
Vascular anomalies
Vascular dementia
Vascular elastogenesis
Vasculitis
Vasculitis due to ADA2 deficiency
Vasculopathy
Vasospasm of the extracranial internal carotid artery
Vein of Galen aneurysmal malformation
Vein of Galen malformation
Vein of Galen malformation choroidal
Vein of Galen malformation mural
Velocardiofacial syndrome
Venous malformation
Venous thromboembolic disease
Venous thromboembolism
Venous thromboembolism and ischaemic stroke increased risk
Venous thromboembolism increased risk
Venous thrombosis
Venous thrombosis increased risk
Venous thrombosis increased risk association
Venous thrombosis reduced risk association
Ventricular arrhythmia & sudden cardiac death
Ventricular arrhythmia exercise induced
Ventricular arrhythmia paediatric
Ventricular arrhythmias
Ventricular arrhythmias & early onset atrial fibrillation
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Ventricular fibrillation
Ventricular fibrillation cardiac arrest
Ventricular fibrillation during acute myocardial infarction
Ventricular fibrillation idiopathic
Ventricular fibrillation recurrent
Ventricular fibrillation, paroxysmal familial, type 1
Ventricular pre excitation & cardiac hypertrophy
Ventricular septal defect
Ventricular septal defect 1
Ventricular septal defect 3
Ventricular septal defect Coarctation of aorta Failure to thrive Coloboma
Ventricular septal defect Failure to thrive Cleft lip/Palate Hypertelorism Facial dysmorphism depressed nasal bridge lower ear set Contracture Club foot Syndactyly Amputated finger Amniotic band Encephalocele
Ventricular septal defect PFO Fine/Gross motor delay Speech delay Intellectual disability Seizure Spasticity Gastrointestinal reflux
Ventricular septal defect failure to thrive speech delay agenesis of corpus callosum hypospadias hydronephrosis facial dysmorphism
Ventricular septal defect increased risk
Ventricular septal defect overgrowth coloboma increased vascular skin stain syndactyly vertebral anomalies
Ventricular septal defect with pulmonary stenosis
Ventricular septal defects Growth retardation Gross motor delay Intellectual disability Learning disability Seizures
Ventricular tachycardia
Ventricular tachycardia idiopathic
Ventricular tachycardia polymorphic
Ventricular tachycardia, somatic
Ventriculomegaly
Ventriculomegaly agenesis of corpus callosum
Ventriculomegaly and cavum septum pellucidum
Ventriculomegaly prenatal
Ventriculomegaly severe
Ventriculomegaly with cystic kidney disease
Ventriculomegaly-cystic kidney disease
Ventriculoseptal defect
Verheij syndrome
Vermian hypoplasia and cardiomegaly
Vernal keratoconjunctivitis
Verrucosis & immunodeficiency
Vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral malformation
Vertebral, cardiac, renal, and limb defects syndrome 3
Vertical talus and Charcot Marie Tooth disease
Ververi-Brady syndrome
Very long chain acyl CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Vesicoureteral reflux
Vesicoureteral reflux 8
Vibratory urticaria
Vici syndrome
Visceral leiomyopathy degenerative
Visceral leishmaniasis relapse after cure in
Visceral myopathy
Visceral myopathy familial
Visceral neuropathy, familial, 1, autosomal recessive
Visceral neuropathy, familial, 2, autosomal recessive
Vissers-Bodmer syndrome
Visual impairment and progressive phthisis bulbi
Visual loss progressive microcephaly developmental delay seizures and abnormal subcortical white matter
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin D affinity
Vitamin D-dependent rickets type II with alopecia
Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1A
Vitamin D-dependent rickets, type 3
Vitamin K dependent clotting factors deficiency type 2
Vitamin K dependent coagulation factor deficiency
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Vitamin K-dependent clotting factors, combined deficiency of, type 2
Vitelliform macular dystrophy 2
Vitelliform macular dystrophy 4
Vitelliform macular dystrophy 5
Vitiligo
Vitiligo association multiple autoimmune disease susceptibility
Vitiligo increased risk
Vitiligo vulgaris
Vitreoretinochoroidopathy autosomal dominant
Vitreoretinopathy
Vitreoretinopathy neovascular inflammatory
Vitreoretinopathy unspecified
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Vocal chord & pharyngeal weakness with distal myopathy
Vocal chord paralysis isolated
Vogt Koyanagi Harada syndrome
Vohwinkel syndrome
Von Hippel Lindau syndrome
Von Hippel Lindau syndrome & phaeochromocytoma
Von Hippel Lindau syndrome type 1
Von Hippel Lindau syndrome type 2A
Von Hippel-Lindau syndrome
Von Willebrand Normandy variant
Von Willebrand disease
Von Willebrand disease 1
Von Willebrand disease 1h
Von Willebrand disease 2
Von Willebrand disease 2a
Von Willebrand disease 2a/2b
Von Willebrand disease 2a/2c
Von Willebrand disease 2a/2m
Von Willebrand disease 2b
Von Willebrand disease 2b like
Von Willebrand disease 2c
Von Willebrand disease 2m
Von Willebrand disease 2n
Von Willebrand disease 2n/1
Von Willebrand disease 2u
Von Willebrand disease 3
Von Willebrand disease Vicenza type
Von Willebrand disease platelet type
Von Willebrand disease quantitative type
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Vulvovaginal cancer
WHIM syndrome
WHIM syndrome 2
WHITE-KERNOHAN SYNDROME
Waardenburg Hirschsprung disease
Waardenburg anophthalmia syndrome
Waardenburg anophthalmia syndrome 4
Waardenburg syndrome
Waardenburg syndrome 1
Waardenburg syndrome 2
Waardenburg syndrome 2 with pigmented macules
Waardenburg syndrome 2E
Waardenburg syndrome 3
Waardenburg syndrome 4
Waardenburg syndrome 4B
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Waardenburg syndrome type 2E
Waardenburg syndrome type 2E, with neurologic involvement
Waardenburg syndrome type 2E, without neurologic involvement
Waardenburg syndrome type 3
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Waist circumference
Waist to hip ratio
Waldenstrom disease
Waldenström macroglobulinemia
Walker Warburg syndrome
Walker Warburg syndrome / muscle eye brain disease
Walker Warburg syndrome with large cystic kidneys
Walker-Warburg congenital muscular dystrophy
Warburg Cinotti syndrome
Warburg Micro syndrome
Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 3
Warburg-cinotti syndrome
Warfarin resistance
Warfarin response
Warfarin sensitivity
Warsaw breakage syndrome
Warsaw breakage syndrome with small radii & fibulae
Weak Vel expression
Weakened S antigen expression
Weakened protein interaction
Weaver like syndrome
Weaver syndrome
Weaver syndrome with acute myeloid leukaemia & haemophagocytic lymphohistiocytosis
Webbed neck hypertelorism ptosis long philtrum developmental delay cardiomyopathy
Weight gain
Weight variance
Weill Marchesani syndrome
Weill Marchesani syndrome with cervical artery dissection
Weill Marchesani syndrome with thoracic aortic disease
Weill-Marchesani 4 syndrome, recessive
Weill-Marchesani syndrome 1
Weill-Marchesani syndrome 3
Welander distal myopathy
Werdnig-Hoffmann disease
Werner syndrome
Werner syndrome atypical
Werner syndrome atypical with cerebral haemorrhage
Werner syndrome with ischemic disease
Wernicke's like encephalopathy
West syndrome
West syndrome & severe psychomotor development retardation
West syndrome developmental regression and cerebellar atrophy
West syndrome epileptic seizures and intellectual disability
West syndrome failure to thrive and cerebral and cerebellar atrophy
West syndrome optic atrophy neutropaenia cardiomyopathy Leigh syndrome and persistent 3 methylglutaconic aciduria
West syndrome phenotype modifier
West syndrome with autistic features
West syndrome with developmental delay
West syndrome with developmental disability
West syndrome with hypotonia
West syndrome/Lennox Gastaut syndrome
Wet age related macular degeneration
Weyers acrodental dysostosis
White blood cell count
White blood cell traits
White matter & corpus callosal thinning
White matter disease intellectual disability & microcephaly
White matter hyperintensities
White matter lesions
White sponge nevus
White sponge nevus 1
White sponge nevus 2
Wieacker Wolff syndrome
Wieacker-Wolff syndrome
Wieacker-Wolff syndrome, female-restricted
Wiedemann Rautenstrauch syndrome
Wiedemann Steiner syndrome
Wiedemann Steiner syndrome and autism spectrum disorder
Wiedemann Steiner syndrome atypical
Wiedemann Steiner syndrome epilepsy feeding difficulties microcephaly & immunodeficiency
Wiedemann-Steiner syndrome
Williams Beuren syndrome & autism
Wilms tumor 1
Wilms tumour
Wilson disease
Wilson disease neurological modifier of
Wilson disease phenotype modifier
Wilson disease with early and/or severe hepatic disease
Wilson disease with neuropsychiatric decline
Winchester disease
Winchester syndrome
Wiskott Aldrich syndrome
Wiskott Aldrich syndrome related disorder
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome, attenuated
Wnt signaling defect
Wolcott Rallison syndrome
Wolcott-Rallison dysplasia
Wolff Parkinson White syndrome
Wolff Parkinson White syndrome with cardiac hypertrophy
Wolff Parkinson White syndrome with ventricular hypertrophy and conduction system disease
Wolff-Parkinson-White pattern
Wolfram like syndrome autosomal dominant
Wolfram syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
Wolframin variant
Wolman disease
Woolly hair
Woolly hair autosomal dominant
Woolly hair autosomal dominant & hypotrichosis
Woolly hair, autosomal recessive 2, with or without hypotrichosis
Woolly hair-palmoplantar keratoderma syndrome
Woolly hair/ PPK/cardiomyopathy/mucocutaneous blistering
Worth disease
Writer's cramp increased risk
X linked Joubert syndrome & orofaciodigital features with pituitary gland aplasia
X linked dilated cardiomyopathy with conduction defects & arrhythmias
X linked intellectual disability cerebellar hypoplasia and spondylo epiphyseal dysplasia
X linked mental retardation
X linked mental retardation & cleft lip/palate
X linked myopathy with excessive autophagy
X linked myopathy with postural muscle atrophy
X-linked Alport syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked Opitz G/BBB syndrome
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked chondrodysplasia punctata 1
X-linked complicated corpus callosum dysgenesis
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked distal spinal muscular atrophy type 3
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked hydrocephalus syndrome
X-linked intellectual disability Cabezas type
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability, van Esch type
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-hypotonic face syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked progressive cerebellar ataxia
X-linked scapuloperoneal muscular dystrophy
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
X-linked spondyloepimetaphyseal dysplasia
XDH deficiency
XFE progeroid syndrome
XIAP deficiency
XRCC3 deficiency
XX gonadal dysgenesis
XY gonadal dysgenesis
XY sex reversal
XY sex reversal and adrenal insufficiency
XY sex reversal with adrenal failure
XY sex reversal without adrenal failure
Xanthinuria type 1
Xanthinuria type 2
Xanthinuria type II
Xanthurenic aciduria
Xerocytosis / dehydrated stomatocytosis with haemolysis
Xerocytosis hereditary
Xeroderma pigmentosum
Xeroderma pigmentosum (A)
Xeroderma pigmentosum (C)
Xeroderma pigmentosum (E)
Xeroderma pigmentosum (F)
Xeroderma pigmentosum (G)
Xeroderma pigmentosum / Cockayne syndrome
Xeroderma pigmentosum group A
Xeroderma pigmentosum group B
Xeroderma pigmentosum neurological disease
Xeroderma pigmentosum variant
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group E
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, type F/Cockayne syndrome
Xeroderma pigmentosum/Cockayne syndrome
Xerosis and poikiloderma
Xia Gibbs syndrome
YT2 blood group antigen
Yao syndrome
Yemenite deaf blind hypopigmentation syndrome
Yoon-Bellen neurodevelopmental syndrome
You Hoover Fong syndrome
Young adult onset very slowly progressive decline with spastic paraparesis in alzheimers disease
Young adult-onset distal hereditary motor neuropathy
Young-onset Parkinson disease
Yunis Varon syndrome
Yunis-Varon syndrome
ZAP70 deficiency
ZTTK syndrome
Zebra body myopathy
Zellweger spectrum disorder mild
Zellweger spectrum disorder moderate
Zellweger spectrum disorders
Zellweger syndrome
Zellweger syndrome C
Zellweger syndrome H
Zimmermann Laband syndrome
Zimmermann-Laband syndrome 1
Zimmermann-Laband syndrome 2
Zimmermann-laband syndrome 3
Zinc deficiency in breast milk leading to transient neonatal zinc deficiency
Zinc deficiency, transient neonatal
Zinc homeostasis
alpha Thalassemia
anencephaly
ara C resistance
ara C sensitivity
atrioventricular node disease
atypical cerebral palsy
beta Thalassemia
cblC deficiency
cleft palate proliferative retinopathy and developmental delay
de la Chapelle dysplasia
delta Thalassemia
epileptic encephalopathy, early infanitle, 1
hyperCKaemie limb girdle muscle weakness opthalmoplegia
lung disease immunodeficiency and chromosome breakage syndrome
mitochondrial hepatopathy
nan
nonsyndromic sensorineural hearing loss
not provided
not specified
p phenotype
sST2 levels
von Willebrand disease type 1
von Willebrand disease type 2
von Willebrand disease type 2M
von Willebrand disease type 2N
von Willebrand disease type 3
von Willebrand disorder