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Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
Browse by First Letter
- A-alphalipoprotein Neuropathy, see Tangier disease
- A-T, see ataxia-telangiectasia
- AAA, see triple A syndrome
- AAA syndrome, see triple A syndrome
- AADC deficiency, see aromatic l-amino acid decarboxylase deficiency
- Aarskog syndrome, see Aarskog-Scott syndrome
- Aarskog-Scott syndrome
- AAS, see Aarskog-Scott syndrome
- AASA dehydrogenase deficiency, see pyridoxine-dependent epilepsy
- Aase syndrome, see Diamond-Blackfan anemia
- Aase-Smith syndrome II, see Diamond-Blackfan anemia
- AAT, see alpha-1 antitrypsin deficiency
- AATD, see alpha-1 antitrypsin deficiency
- AB variant, see GM2-gangliosidosis, AB variant
- ABCB11-related intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis
- ABCB11-related intrahepatic cholestasis, see progressive familial intrahepatic cholestasis
- ABCB4-related intrahepatic cholestasis, see progressive familial intrahepatic cholestasis
- abdominal hernia, see abdominal wall defect
- abdominal migraine, see cyclic vomiting syndrome
- abdominal wall defect
- abetalipoproteinemia
- Abetalipoproteinemia neuropathy, see abetalipoproteinemia
- absence defect of limbs, scalp, and skull, see Adams-Oliver syndrome
- absence of fingerprints, see adermatoglyphia
- Absence of vas deferens, see congenital bilateral absence of the vas deferens
- absent iris, see aniridia
- absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, seegenitopatellar syndrome
- absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO syndrome
- Absent vasa, see congenital bilateral absence of the vas deferens
- AC deficiency, see Farber lipogranulomatosis
- ACADM deficiency, see medium-chain acyl-CoA dehydrogenase deficiency
- ACADS deficiency, see short-chain acyl-CoA dehydrogenase deficiency
- ACADVL, see very long-chain acyl-CoA dehydrogenase deficiency
- acanthocytosis, see abetalipoproteinemia
- acanthocytosis with neurologic disorder, see chorea-acanthocytosis
- acatalasemia
- acatalasia, see acatalasemia
- ACC, see nonsyndromic aplasia cutis congenita
- ACCPN, see Andermann syndrome
- ACD, see alveolar capillary dysplasia with misalignment of pulmonary veins
- ACD/MPV, see alveolar capillary dysplasia with misalignment of pulmonary veins
- ACDMPV, see alveolar capillary dysplasia with misalignment of pulmonary veins
- aceruloplasminemia
- ACH, see achondroplasia
- Achalasia-addisonian syndrome, see triple A syndrome
- Achalasia-Addisonianism-Alacrima syndrome, see triple A syndrome
- Achalasia-alacrima syndrome, see triple A syndrome
- achondrogenesis
- achondrogenesis syndrome, see achondrogenesis
- achondrogenesis type II/hypochondrogenesis, see hypochondrogenesis
- achondroplasia
- achondroplasia, severe, with developmental delay and acanthosis nigricans, see SADDAN
- achondroplastic dwarfism, see achondroplasia
- achromatism, see achromatopsia
- achromatopsia
- acid ceramidase deficiency, see Farber lipogranulomatosis
- Acid lipase deficiency, see Wolman disease
- acid maltase deficiency, see Pompe disease
- acid maltase deficiency disease, see Pompe disease
- ACMICD, see acromicric dysplasia
- acne inversa, see hidradenitis suppurativa
- ACPS II, see Carpenter syndrome
- acral dysostosis with facial and genital abnormalities, see Robinow syndrome
- acral peeling skin syndrome
- acrocephalopolysyndactyly 2, see Carpenter syndrome
- acrocephalopolysyndactyly type II, see Carpenter syndrome
- Acrocephalosyndactyly (Apert), see Apert syndrome
- acrocephalosyndactyly III, see Saethre-Chotzen syndrome
- acrocephalosyndactyly, type II, see Carpenter syndrome
- Acrocephalosyndactyly, type III, see Saethre-Chotzen syndrome
- acrocephalosyndactyly, type V, see Pfeiffer syndrome
- Acrocephaly, Skull Asymmetry, and Mild Syndactyly, see Saethre-Chotzen syndrome
- acrodental dysostosis of Weyers, see Weyers acrofacial dysostosis
- acroerythrokeratoderma, see mal de Meleda
- acrofacial dysostosis 1, Nager type, see Nager syndrome
- acromicric dysplasia
- acroosteolysis dominant type, see Hajdu-Cheney syndrome
- acroosteolysis with osteoporosis and changes in skull and mandible, see Hajdu-Cheney syndrome
- acrosome malformation of spermatozoa, see globozoospermia
- ACS III, see Saethre-Chotzen syndrome
- ACS V, see Pfeiffer syndrome
- ACS3, see Saethre-Chotzen syndrome
- ACS5, see Pfeiffer syndrome
- ACTH resistance, see familial glucocorticoid deficiency
- ACTH-independent macronodular adrenal hyperplasia, see primary macronodular adrenal hyperplasia
- ACTH-independent macronodular adrenocortical hyperplasia, see primary macronodular adrenal hyperplasia
- actin filament aggregate myopathy, see actin-accumulation myopathy
- actin myopathy, see actin-accumulation myopathy
- actin-accumulation myopathy
- activated PI3K-delta syndrome
- Activator Deficiency/GM2 Gangliosidosis, see GM2-gangliosidosis, AB variant
- Activator-deficient Tay-Sachs disease, see GM2-gangliosidosis, AB variant
- acute febrile mucocutaneous lymph node syndrome, see Kawasaki disease
- acute infectious polyneuritis, see Guillain-Barré syndrome
- acute inflammatory polyneuropathy, see Guillain-Barré syndrome
- acute myelogenous leukemia with normal karyotype, see cytogenetically normal acute myeloid leukemia
- acute promyelocytic leukemia
- ACY1D, see aminoacylase 1 deficiency
- ACY2 deficiency, see Canavan disease
- acyl-CoA dehydrogenase very long chain deficiency, see very long-chain acyl-CoA dehydrogenase deficiency
- acylsphingosine deacylase deficiency, see Farber lipogranulomatosis
- AD, see Alzheimer disease
- AD-HIES, see autosomal dominant hyper-IgE syndrome
- ADA deficiency, see adenosine deaminase deficiency
- ADA-SCID, see adenosine deaminase deficiency
- ADA2 deficiency, see adenosine deaminase 2 deficiency
- Adamantiades-Behcet disease, see Behçet disease
- Adams-Oliver syndrome
- adCSNB, see autosomal dominant congenital stationary night blindness
- ADCY5-related dyskinesia
- ADDH, see Pol III-related leukodystrophy
- Addison disease and cerebral sclerosis, see X-linked adrenoleukodystrophy
- adenine phosphoribosyltransferase deficiency
- adenomatosis, familial endocrine, see multiple endocrine neoplasia
- adenomatous familial polyposis, see familial adenomatous polyposis
- adenomatous familial polyposis syndrome, see familial adenomatous polyposis
- adenomatous polyposis coli, see familial adenomatous polyposis
- adenosine deaminase 2 deficiency
- adenosine deaminase deficiency
- adenosine deaminase deficient severe combined immunodeficiency, see adenosine deaminase deficiency
- adenosine monophosphate deaminase deficiency
- adenylosuccinase deficiency, see adenylosuccinate lyase deficiency
- adenylosuccinate lyase deficiency
- ADERM, see adermatoglyphia
- adermatoglyphia
- ADG, see adermatoglyphia
- ADH, see autosomal dominant hypocalcemia
- ADH-resistant diabetes insipidus, see nephrogenic diabetes insipidus
- adiposalgia, see adiposis dolorosa
- adipose tissue rheumatism, see adiposis dolorosa
- adiposis dolorosa
- ADLTE, see autosomal dominant partial epilepsy with auditory features
- ADNFLE, see autosomal dominant nocturnal frontal lobe epilepsy
- ADOA, see optic atrophy type 1
- adolescent idiopathic scoliosis
- adolescent myoclonic epilepsy, see juvenile myoclonic epilepsy
- ADPEAF, see autosomal dominant partial epilepsy with auditory features
- adrenal Cushing syndrome due to AIMAH, see primary macronodular adrenal hyperplasia
- adrenal hyperplasia V, see 17 alpha-hydroxylase/17,20-lyase deficiency
- adrenal hyperplasia, hypertensive form, see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Adrenal hypoplasia congenita, see X-linked adrenal hypoplasia congenita
- adrenal unresponsiveness to ACTH, see familial glucocorticoid deficiency
- adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, see primary macronodular adrenal hyperplasia
- ADSL deficiency, see adenylosuccinate lyase deficiency
- adult neuronal ceroid lipofuscinosis, see Kufs disease
- adult onset ataxia with oculomotor apraxia, see ataxia with oculomotor apraxia
- adult polyglucosan body disease
- Adult premature aging syndrome, see Werner syndrome
- Adult Progeria, see Werner syndrome
- adult Refsum disease, see Refsum disease
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- ADVIRC, see autosomal dominant vitreoretinochoroidopathy
- adynamia episodica hereditaria, see hyperkalemic periodic paralysis
- AEC syndrome, see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- AEG syndrome, see SOX2 anophthalmia syndrome
- AEXS, see aromatase excess syndrome
- AFD1, see Nager syndrome
- afibrinogenemia, see congenital afibrinogenemia
- African hemochromatosis, see African iron overload
- African iron overload
- African nutritional hemochromatosis, see African iron overload
- African siderosis, see African iron overload
- AGA deficiency, see aspartylglucosaminuria
- agammaglobulinemia, see X-linked agammaglobulinemia
- aganglionic megacolon, see Hirschsprung disease
- AGAT deficiency, see arginine:glycine amidinotransferase deficiency
- age-related macular degeneration
- age-related maculopathy, see age-related macular degeneration
- agenesis of cerebellar vermis, see Joubert syndrome
- agenesis of corpus callosum with chorioretinal abnormality, see Aicardi syndrome
- agenesis of corpus callosum with infantile spasms and ocular abnormalities, see Aicardi syndrome
- agenesis of corpus callosum with neuronopathy, see Andermann syndrome
- agenesis of corpus callosum with peripheral neuropathy, see Andermann syndrome
- agenesis of corpus callosum with polyneuropathy, see Andermann syndrome
- aggressive fibromatosis, see desmoid tumor
- AGL deficiency, see glycogen storage disease type III
- agnogenic myeloid metaplasia, see primary myelofibrosis
- AGS, see Aicardi-Goutieres syndrome
- AH, see autosomal recessive hypotrichosis
- aHUS, see atypical hemolytic-uremic syndrome
- AI, see amelogenesis imperfecta
- Aicardi Goutieres syndrome, see Aicardi-Goutieres syndrome
- Aicardi syndrome
- Aicardi's syndrome, see Aicardi syndrome
- Aicardi-Goutieres syndrome
- AIMAH, see primary macronodular adrenal hyperplasia
- AIRE deficiency, see autoimmune polyglandular syndrome, type 1
- AIS, see adolescent idiopathic scoliosis
- AIS, see androgen insensitivity syndrome
- AKU, see alkaptonuria
- Al-Aqeel Sewairi syndrome, see multicentric osteolysis, nodulosis, and arthropathy
- Alacrima-achalasia-adrenal insufficiency neurologic disorder, see triple A syndrome
- alactasia, see lactose intolerance
- Alagille syndrome
- Alagille's syndrome, see Alagille syndrome
- Alagille-Watson Syndrome, see Alagille syndrome
- albinism and complete nerve deafness, see Tietz syndrome
- Albinism, Ocular, see ocular albinism
- albinism, oculocutaneous, see oculocutaneous albinism
- albinism-deafness of Tietz, see Tietz syndrome
- Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion syndrome
- Albright syndrome, see McCune-Albright syndrome
- Albright's disease, see McCune-Albright syndrome
- Albright's disease of bone, see McCune-Albright syndrome
- Albright's syndrome, see McCune-Albright syndrome
- Albright's syndrome with precocious puberty, see McCune-Albright syndrome
- Albright-McCune-Sternberg syndrome, see McCune-Albright syndrome
- Albright-Sternberg syndrome, see McCune-Albright syndrome
- alcaptonuria, see alkaptonuria
- alcohol-responsive dystonia, see myoclonus-dystonia
- ALDD, see Nakajo-Nishimura syndrome
- ALDOB deficiency, see hereditary fructose intolerance
- aldolase B deficiency, see hereditary fructose intolerance
- aldosterone deficiency, see corticosterone methyloxidase deficiency
- aldosterone deficiency due to deficiency of steroid 18-hydroxylase, see corticosterone methyloxidase deficiency
- aldosterone deficiency due to deficiency of steroid 18-oxidase, see corticosterone methyloxidase deficiency
- aldosterone synthase deficiency, see corticosterone methyloxidase deficiency
- aldosteronism with hyperplasia of the adrenal cortex, see Bartter syndrome
- Alexander disease
- Alexander's disease, see Alexander disease
- ALG1-CDG, see ALG1-congenital disorder of glycosylation
- ALG1-congenital disorder of glycosylation
- ALG12-CDG, see ALG12-congenital disorder of glycosylation
- ALG12-congenital disorder of glycosylation
- ALG6-CDG, see ALG6-congenital disorder of glycosylation
- ALG6-congenital disorder of glycosylation
- Alibert-Bazin syndrome, see mycosis fungoides
- alkaptonuria
- Allan-Herndon syndrome, see Allan-Herndon-Dudley syndrome
- Allan-Herndon-Dudley syndrome
- Allanson Pantzar McLeod syndrome, see renal tubular dysgenesis
- allergic asthma
- Allgrove syndrome, see triple A syndrome
- ALMS, see Alström syndrome
- Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, see Alpers-Huttenlocher syndrome
- Alpers disease, see Alpers-Huttenlocher syndrome
- Alpers progressive infantile poliodystrophy, see Alpers-Huttenlocher syndrome
- Alpers syndrome, see Alpers-Huttenlocher syndrome
- Alpers-Huttenlocher syndrome
- alpha High Density Lipoprotein Deficiency Disease, see Tangier disease
- alpha thalassemia
- alpha thalassemia X-linked intellectual disability syndrome
- alpha thalassemia X-linked mental retardation syndrome, see alpha thalassemia X-linked intellectual disability syndrome
- alpha thalassemia/mental retardation, X-linked, see alpha thalassemia X-linked intellectual disability syndrome
- alpha-1 antitrypsin deficiency
- alpha-1 protease inhibitor deficiency, see alpha-1 antitrypsin deficiency
- alpha-1 related emphysema, see alpha-1 antitrypsin deficiency
- alpha-1,4-glucosidase deficiency, see Pompe disease
- alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia
- alpha-D-mannosidosis, see alpha-mannosidosis
- Alpha-fucosidase deficiency, see fucosidosis
- alpha-galactosidase A deficiency, see Fabry disease
- alpha-galactosidase B deficiency, see Schindler disease
- alpha-galNAc deficiency, Schindler type, see Schindler disease
- alpha-LCAT deficiency, see fish-eye disease
- alpha-lecithin:cholesterol acyltransferase deficiency, see fish-eye disease
- alpha-mannosidase B deficiency, see alpha-mannosidosis
- alpha-mannosidase deficiency, see alpha-mannosidosis
- alpha-mannosidosis
- alpha-Methylacetoacetic aciduria, see beta-ketothiolase deficiency
- alpha-methylacyl-CoA racemase deficiency
- alpha-N-acetylgalactosaminidase deficiency, see Schindler disease
- alpha-NAGA deficiency, see Schindler disease
- alpha-thalassemia, see alpha thalassemia
- alpha-thalassemia X-linked mental retardation syndrome, see alpha thalassemia X-linked intellectual disability syndrome
- alpha-thalassemia/mental retardation syndrome, nondeletion type, see alpha thalassemia X-linked intellectual disability syndrome
- Alport syndrome
- ALPS, see autoimmune lymphoproliferative syndrome
- ALS, see amyotrophic lateral sclerosis
- ALSP, see adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Alstrom syndrome, see Alström syndrome
- Alstrom-Hallgren syndrome, see Alström syndrome
- Alström syndrome
- alternating hemiplegia of childhood
- alternating hemiplegia syndrome, see alternating hemiplegia of childhood
- alveolar capillary dysplasia, see alveolar capillary dysplasia with misalignment of pulmonary veins
- alveolar capillary dysplasia with misalignment of pulmonary veins
- ALX, see Alexander disease
- alymphoid cystic thymic dysgenesis, see T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- Alzheimer dementia (AD), see Alzheimer disease
- Alzheimer disease
- Alzheimer sclerosis, see Alzheimer disease
- Alzheimer syndrome, see Alzheimer disease
- Alzheimer's Disease, see Alzheimer disease
- Alzheimer-type dementia (ATD), see Alzheimer disease
- AMACR deficiency, see alpha-methylacyl-CoA racemase deficiency
- amaurosis, Leber congenital, see Leber congenital amaurosis
- AMCD1, see distal arthrogryposis type 1
- AMD, see age-related macular degeneration
- AMD, see Pompe disease
- amelogenesis imperfecta
- aminoacylase 1 deficiency
- aminoacylase 2 deficiency, see Canavan disease
- Amish brittle hair syndrome, see trichothiodystrophy
- Amish infantile epilepsy syndrome, see GM3 synthase deficiency
- Amish lethal microcephaly
- Amish microcephaly, see Amish lethal microcephaly
- AML M3, see acute promyelocytic leukemia
- AMP deaminase deficiency, see adenosine monophosphate deaminase deficiency
- amyloid cranial neuropathy with lattice corneal dystrophy, see lattice corneal dystrophy type II
- amyloidosis due to mutant gelsolin, see lattice corneal dystrophy type II
- amyloidosis V, see lattice corneal dystrophy type II
- amyloidosis, Finnish type, see lattice corneal dystrophy type II
- amyloidosis, Meretoja type, see lattice corneal dystrophy type II
- amylopectinosis, see glycogen storage disease type IV
- amyotrophic lateral sclerosis
- amyotrophic lateral sclerosis with dementia, see amyotrophic lateral sclerosis
- Amyotrophic Neuralgia, see hereditary neuralgic amyotrophy
- anal-ear-renal-radial malformation syndrome, see Townes-Brocks Syndrome
- Analphalipoproteinemia, see Tangier disease
- Ancell-Spiegler cylindromas, see familial cylindromatosis
- Andermann syndrome
- Anders syndrome, see adiposis dolorosa
- Andersen cardiodysrhythmic periodic paralysis, see Andersen-Tawil syndrome
- Andersen disease, see glycogen storage disease type IV
- Andersen glycogenosis, see glycogen storage disease type IV
- Andersen syndrome, see Andersen-Tawil syndrome
- Andersen's disease, see glycogen storage disease type IV
- Andersen-Tawil syndrome
- Anderson disease, see chylomicron retention disease
- Anderson syndrome, see chylomicron retention disease
- Anderson-Fabry disease, see Fabry disease
- Anderson-Warburg syndrome, see Norrie disease
- androgen insensitivity syndrome
- Androgen receptor deficiency, see androgen insensitivity syndrome
- Androgen resistance syndrome, see androgen insensitivity syndrome
- androgenetic alopecia
- androgenic alopecia, see androgenetic alopecia
- Anemia, Dyserythropoietic, Congenital, see congenital dyserythropoietic anemia
- Anemia, hereditary sideroblastic, see X-linked sideroblastic anemia
- anemia, hypochromic microcytic, with defect in iron metabolism, see iron-refractory iron deficiency anemia
- Anemia, sex-linked hypochromic sideroblastic, see X-linked sideroblastic anemia
- anencephalia, see anencephaly
- anencephalus, see anencephaly
- anencephaly
- anesthesia related hyperthermia, see malignant hyperthermia
- Angelman syndrome
- Angelman-like syndrome, X-linked, see Christianson syndrome
- angio-osteohypertrophy syndrome, see Klippel-Trenaunay syndrome
- angiohemophilia, see von Willebrand disease
- angiokeratoma corporis diffusum, see Fabry disease
- angiokeratoma corporis diffusum-glycopeptiduria, see Schindler disease
- angiokeratoma diffuse, see Fabry disease
- angiomatosis retinae, see von Hippel-Lindau syndrome
- ANH1, see X-linked sideroblastic anemia
- Anhidrotic Ectodermal Dysplasia, see hypohidrotic ectodermal dysplasia
- anhidrotic ectodermal dysplasia with immune deficiency
- aniridia
- aniridia, cerebellar ataxia, and mental retardation, see Gillespie syndrome
- aniridia-cerebellar ataxia-intellectual disability, see Gillespie syndrome
- aniridia-cerebellar ataxia-mental deficiency, see Gillespie syndrome
- ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ankylosing spondylitis
- annuloaortic ectasia, see familial thoracic aortic aneurysm and dissection
- Anophthalmia-esophageal-genital syndrome, see SOX2 anophthalmia syndrome
- anophthalmia-syndactyly, see ophthalmo-acromelic syndrome
- anophthalmia-Waardenburg syndrome, see ophthalmo-acromelic syndrome
- anophthalmos with limb anomalies, see ophthalmo-acromelic syndrome
- anophthalmos-limb anomalies syndrome, see ophthalmo-acromelic syndrome
- anosmic hypogonadism, see Kallmann syndrome
- anosmic idiopathic hypogonadotropic hypogonadism, see Kallmann syndrome
- ANS, see ataxia neuropathy spectrum
- anti-phospholipid syndrome, see antiphospholipid syndrome
- antiphospholipid antibody syndrome, see antiphospholipid syndrome
- antiphospholipid syndrome
- Antithrombin III Deficiency, see hereditary antithrombin deficiency
- Antley-Bixler syndrome, see cytochrome P450 oxidoreductase deficiency
- Antley-Bixler syndrome with disordered steroidogenesis, see cytochrome P450 oxidoreductase deficiency
- Antley-Bixler syndrome-like phenotype with disordered steroidogenesis, see cytochrome P450 oxidoreductase deficiency
- AO2, see atelosteogenesis type 2
- AOI, see atelosteogenesis type 1
- AOIII, see atelosteogenesis type 3
- aortic stenosis, supravalvular, see supravalvular aortic stenosis
- AOS, see Adams-Oliver syndrome
- APBD, see adult polyglucosan body disease
- APC resistance, Leiden type, see factor V Leiden thrombophilia
- APDS, see activated PI3K-delta syndrome
- APECED, see autoimmune polyglandular syndrome, type 1
- Apert syndrome
- APL, see acute promyelocytic leukemia
- aplasia cutis congenita with terminal transverse limb defects, see Adams-Oliver syndrome
- Apolipoprotein B deficiency, see abetalipoproteinemia
- Appelt-Gerken-Lenz syndrome, see Roberts syndrome
- aprosencephaly, see anencephaly
- APRT deficiency, see adenine phosphoribosyltransferase deficiency
- APS type 1, see autoimmune polyglandular syndrome, type 1
- APS1, see autoimmune polyglandular syndrome, type 1
- APSS, see acral peeling skin syndrome
- AR deficiency, see androgen insensitivity syndrome
- AR dRTA with deafness, see renal tubular acidosis with deafness
- AR dRTA with hearing loss, see renal tubular acidosis with deafness
- AR-HIES, see autosomal recessive hyper-IgE syndrome
- Arakawa syndrome 1, see glutamate formiminotransferase deficiency
- ARAN-NM, see autosomal recessive axonal neuropathy with neuromyotonia
- ARCA1, see autosomal recessive cerebellar ataxia type 1
- ARD, see Refsum disease
- ARG1 deficiency, see arginase deficiency
- arginase deficiency
- Arginase Deficiency Disease, see arginase deficiency
- arginine:glycine amidinotransferase deficiency
- Argininemia, see arginase deficiency
- Argininosuccinate lyase deficiency, see argininosuccinic aciduria
- argininosuccinic acidemia, see argininosuccinic aciduria
- argininosuccinic aciduria
- Argininosuccinicaciduria, see argininosuccinic aciduria
- argininosuccinyl-CoA lyase deficiency, see argininosuccinic aciduria
- arginosuccinase deficiency, see argininosuccinic aciduria
- ARMD, see age-related macular degeneration
- aromatase deficiency
- aromatase excess syndrome
- aromatic l-amino acid decarboxylase deficiency
- arrhythmogenic right ventricular cardiomyopathy
- arrhythmogenic right ventricular cardiomyopathy-dysplasia, see arrhythmogenic right ventricular cardiomyopathy
- arrhythmogenic right ventricular dysplasia, see arrhythmogenic right ventricular cardiomyopathy
- arrhythmogenic right ventricular dysplasia/cardiomyopathy, see arrhythmogenic right ventricular cardiomyopathy
- ARS, see Axenfeld-Rieger syndrome
- ARSA deficiency, see metachromatic leukodystrophy
- ARSACS, see autosomal recessive spastic ataxia of Charlevoix-Saguenay
- arterial tortuosity, see arterial tortuosity syndrome
- arterial tortuosity syndrome
- arteriohepatic dysplasia (AHD), see Alagille syndrome
- arteriopathia calcificans infantum, see generalized arterial calcification of infancy
- arthritis, juvenile rheumatoid, see juvenile idiopathic arthritis
- arthritis, rheumatoid, see rheumatoid arthritis
- arthro-dento-osteo dysplasia, see Hajdu-Cheney syndrome
- arthrocutaneouveal granulomatosis, see Blau syndrome
- arthrodentoosteodysplasia, see Hajdu-Cheney syndrome
- arthrogryposis multiplex congenita, distal, type 2B, see Sheldon-Hall syndrome
- arthrogryposis, distal, type 1, see distal arthrogryposis type 1
- arthrogryposis-like syndrome, see Kuskokwim syndrome
- arthrogyroposis, distal, type 9, see congenital contractural arachnodactyly
- arthropathic psoriasis, see psoriatic arthritis
- Arts syndrome
- ARVC, see arrhythmogenic right ventricular cardiomyopathy
- ARVD, see arrhythmogenic right ventricular cardiomyopathy
- ARVD/C, see arrhythmogenic right ventricular cardiomyopathy
- arylsulfatase A deficiency disease, see metachromatic leukodystrophy
- Arylsulfatase B deficiency, see mucopolysaccharidosis type VI
- arylsulfatase E deficiency, see X-linked chondrodysplasia punctata 1
- AS, see ankylosing spondylitis
- AS, see Angelman syndrome
- ASA, see argininosuccinic aciduria
- ASAuria, see argininosuccinic aciduria
- Asidan ataxia, see spinocerebellar ataxia type 36
- ASL deficiency, see argininosuccinic aciduria
- Aspa deficiency, see Canavan disease
- aspartoacylase deficiency, see Canavan disease
- aspartylglucosamidase deficiency, see aspartylglucosaminuria
- Aspartylglucosaminidase deficiency, see aspartylglucosaminuria
- aspartylglucosaminuria
- aspartylglycosaminuria, see aspartylglucosaminuria
- Asperger disease, see Asperger syndrome
- Asperger disorder, see Asperger syndrome
- Asperger syndrome
- Asperger's disease, see Asperger syndrome
- Asperger's disorder, see Asperger syndrome
- Asperger's syndrome, see Asperger syndrome
- asphyxiating thoracic chondrodystrophy, see asphyxiating thoracic dystrophy
- asphyxiating thoracic dysplasia, see asphyxiating thoracic dystrophy
- asphyxiating thoracic dystrophy
- asymbolia for pain, see congenital insensitivity to pain
- asymmetric hypoplasia of facial structures, see craniofacial microsomia
- ataxia neuropathy spectrum
- ataxia telangiectasia syndrome, see ataxia-telangiectasia
- ataxia with isolated vitamin E deficiency, see ataxia with vitamin E deficiency
- ataxia with lactic acidosis, see pyruvate dehydrogenase deficiency
- Ataxia with Lactic Acidosis, Type II, see pyruvate carboxylase deficiency
- ataxia with oculomotor apraxia
- ataxia with vitamin E deficiency
- ataxia, delayed dentition, and hypomyelination, see Pol III-related leukodystrophy
- ataxia, fatal X-linked, with deafness and loss of vision, see Arts syndrome
- ataxia-deafness-optic atrophy, lethal, see Arts syndrome
- ataxia-telangiectasia
- ataxia-telangiectasia variant 1, see Nijmegen breakage syndrome
- ATD, see asphyxiating thoracic dystrophy
- Atelosteogenesis de la Chapelle type, see atelosteogenesis type 2
- atelosteogenesis type 1
- atelosteogenesis type 2
- atelosteogenesis type 3
- atelosteogenesis type I, see atelosteogenesis type 1
- atelosteogenesis type III, see atelosteogenesis type 3
- atelosteogenesis, type 2, see atelosteogenesis type 2
- ATM, see ataxia-telangiectasia
- atopic dermatitis
- atopic eczema, see atopic dermatitis
- ATP8B1-related intrahepatic cholestasis, see progressive familial intrahepatic cholestasis
- ATP8B1-related intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis
- ATR-X syndrome, see alpha thalassemia X-linked intellectual disability syndrome
- atrio-digital syndrome, see Holt-Oram syndrome
- atriodigital dysplasia, see Holt-Oram syndrome
- Atrophia bulborum hereditaria, see Norrie disease
- ATRX syndrome, see alpha thalassemia X-linked intellectual disability syndrome
- ATS, see arterial tortuosity syndrome
- ATS, see Andersen-Tawil syndrome
- atypical hemolytic-uremic syndrome
- atypical Philadelphia-negative chronic myeloid leukemia, see PDGFRB-associated chronic eosinophilic leukemia
- auditory vertigo, see Ménière disease
- AUH defect, see 3-methylglutaconyl-CoA hydratase deficiency
- aural vertigo, see Ménière disease
- Auricular Fibrillation, see familial atrial fibrillation
- auriculo-condylar syndrome
- auriculobranchiogenic dysplasia, see craniofacial microsomia
- auriculocondylar syndrome, see auriculo-condylar syndrome
- Austin syndrome, see multiple sulfatase deficiency
- autism, susceptibility to, 14A, see 16p11.2 deletion syndrome
- autism, susceptibility to, 14B, see 16p11.2 duplication
- autism-dementia-ataxia-loss of purposeful hand use syndrome, see Rett syndrome
- autoimmune Addison disease
- autoimmune Addison's disease, see autoimmune Addison disease
- autoimmune adrenalitis, see autoimmune Addison disease
- autoimmune chronic lymphocytic thyroiditis, see Hashimoto thyroiditis
- autoimmune diabetes, see type 1 diabetes
- autoimmune hyperthyroidism, see Graves disease
- autoimmune lymphoproliferative syndrome
- Autoimmune Polyendocrinopathy Syndrome Type 1, see autoimmune polyglandular syndrome, type 1
- Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see autoimmune polyglandular syndrome, type 1
- Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, see autoimmune polyglandular syndrome, type 1
- autoimmune polyglandular syndrome, type 1
- Autoimmune Syndrome Type I, Polyglandular, see autoimmune polyglandular syndrome, type 1
- autoimmune thyroiditis, see Hashimoto thyroiditis
- autoinflammation, lipodystrophy, and dermatosis syndrome, see Nakajo-Nishimura syndrome
- autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy
- autosomal dominant congenital stationary night blindness
- Autosomal dominant craniometaphyseal dysplasia, see craniometaphyseal dysplasia
- autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- autosomal dominant familial periodic fever, see tumor necrosis factor receptor-associated periodic syndrome
- autosomal dominant hereditary pancreatitis, see hereditary pancreatitis
- autosomal dominant hereditary sensory radicular neuropathy, type 1A, see hereditary sensory neuropathy type IA
- autosomal dominant HIES, see autosomal dominant hyper-IgE syndrome
- autosomal dominant hyaline body myopathy, see myosin storage myopathy
- autosomal dominant hyper-IgE recurrent infection syndrome, see autosomal dominant hyper-IgE syndrome
- autosomal dominant hyper-IgE syndrome
- autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, see autosomal dominant hyper-IgE syndrome
- autosomal dominant hypocalcemia
- autosomal dominant hypoparathyroidism, see autosomal dominant hypocalcemia
- autosomal dominant interstitial kidney disease, see medullary cystic kidney disease type 1
- autosomal dominant Job syndrome, see autosomal dominant hyper-IgE syndrome
- Autosomal dominant lateral temporal lobe epilepsy, see autosomal dominant partial epilepsy with auditory features
- autosomal dominant medullary cystic kidney disease, see medullary cystic kidney disease type 1
- autosomal dominant MYH9 spectrum disorders, see MYH9-related disorder
- autosomal dominant nocturnal frontal lobe epilepsy
- autosomal dominant Opitz G/BBB syndrome, see 22q11.2 deletion syndrome
- autosomal dominant optic atrophy, see optic atrophy type 1
- autosomal dominant optic atrophy Kjer type, see optic atrophy type 1
- autosomal dominant partial epilepsy with auditory features
- autosomal dominant porencephaly type 1, see familial porencephaly
- autosomal dominant spastic paraplegia 31, see spastic paraplegia type 31
- autosomal dominant spastic paraplegia 8, see spastic paraplegia type 8
- autosomal dominant vitreoretinochoroidopathy
- autosomal recessive axonal neuropathy with neuromyotonia
- autosomal recessive cerebellar ataxia type 1
- autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia
- autosomal recessive cerebellar hypoplasia with cerebral gyral simplification, see VLDLR-associated cerebellar hypoplasia
- autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, see autosomal recessive axonal neuropathy with neuromyotonia
- autosomal recessive chronic granulomatous disease, see chronic granulomatous disease
- autosomal recessive complete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness
- autosomal recessive congenital methemoglobinemia
- autosomal recessive congenital stationary night blindness
- Autosomal recessive craniometaphyseal dysplasia, see craniometaphyseal dysplasia
- autosomal recessive deafness-onychodystrophy syndrome, see DOORS syndrome
- autosomal recessive distal renal tubular acidosis with deafness, see renal tubular acidosis with deafness
- autosomal recessive distal spinal muscular atrophy 1, see spinal muscular atrophy with respiratory distress type 1
- Autosomal Recessive Hereditary Spastic Paraplegia, see Troyer syndrome
- Autosomal Recessive Hereditary Spastic Paraplegia, see spastic paraplegia type 7
- autosomal recessive HIES, see autosomal recessive hyper-IgE syndrome
- autosomal recessive hyper-IgE syndrome
- autosomal recessive hypotrichosis
- autosomal recessive incomplete congenital stationary night blindness, see autosomal recessive congenital stationary night blindness
- autosomal recessive infantile parkinsonism, see tyrosine hydroxylase deficiency
- autosomal recessive Larsen syndrome, see CHST3-related skeletal dysplasia
- autosomal recessive localized hypotrichosis, see autosomal recessive hypotrichosis
- autosomal recessive neuromyotonia and axonal neuropathy, see autosomal recessive axonal neuropathy with neuromyotonia
- autosomal recessive OPA3, see Costeff syndrome
- autosomal recessive optic atrophy 3, see Costeff syndrome
- autosomal recessive primary microcephaly
- autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome
- autosomal recessive spastic ataxia of Charlevoix-Saguenay
- autosomal recessive spastic paraplegia 15, see spastic paraplegia type 15
- autosomal recessive spastic paraplegia complicated with thin corpus callosum, see spastic paraplegia type 11
- autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, see spastic paraplegia type 11
- autosomal recessive spinocerebellar ataxia 8, see autosomal recessive cerebellar ataxia type 1
- autosomal recessive woolly hair with or without hypotrichosis, see autosomal recessive hypotrichosis
- AUTS14A, see 16p11.2 deletion syndrome
- AUTS14B, see 16p11.2 duplication
- AVED, see ataxia with vitamin E deficiency
- AxD, see Alexander disease
- Axenfeld and Rieger anomaly, see Axenfeld-Rieger syndrome
- Axenfeld anomaly, see Axenfeld-Rieger syndrome
- Axenfeld syndrome, see Axenfeld-Rieger syndrome
- Axenfeld-Rieger syndrome
- AXRA, see Axenfeld-Rieger syndrome
- AXRS, see Axenfeld-Rieger syndrome
- Ayerza syndrome, see pulmonary arterial hypertension
- Azorean ataxia, see spinocerebellar ataxia type 3
- Azorean disease, see spinocerebellar ataxia type 3
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