Health Conditions - Genetics Home Reference: A | Published: March 7, 2017

Health Conditions - Genetics Home Reference



Published: March 7, 2017

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• 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, seeRAPADILINO 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 esterase deficiency, see lysosomal acid lipase deficiency
• acid lipase deficiency, see lysosomal acid lipase deficiency
• acid maltase deficiency, see Pompe disease
• acid maltase deficiency disease, see Pompe disease
• ACLS, see acrocallosal syndrome
• ACMICD, see acromicric dysplasia
• acne inversa, see hidradenitis suppurativa
• ACPS II, see Carpenter syndrome
• acquired aphasia with epilepsy, see epilepsy-aphasia spectrum
• acral dysostosis with facial and genital abnormalities, see Robinow syndrome
• acral peeling skin syndrome
• acrocallosal 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
• action myoclonus-renal failure syndrome, see action myoclonus–renal failure syndrome
• action myoclonus–renal failure syndrome
• action myoclonus–renal failure syndrome, see action myoclonus–renal failure syndrome
• 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 necrotizing encephalitis, see acute necrotizing encephalopathy type 1
• acute necrotizing encephalopathy type 1
• 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
• ADANE, see acute necrotizing encephalopathy type 1
• 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
• ADLD, see autosomal dominant leukodystrophy with autonomic disease
• 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 CLN4 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 autosomal dominant leukodystrophy with autonomic symptoms, see autosomal dominant leukodystrophy with autonomic 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
• AIPDS, see otulipenia
• AIRE deficiency, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• 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
• albipunctate retinal dystrophy, see fundus albipunctatus
• 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
• AMRF, see action myoclonus–renal failure syndrome
• 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 IX, see primary localized cutaneous amyloidosis
• 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
• ANE1, see acute necrotizing encephalopathy type 1
• 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 aculoorbital-thalamic syndrome, see Sturge-Weber syndrome
• 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 polyendocrinopathy-candidiasis-ectodermal dystrophy
• 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 polyendocrinopathy-candidiasis-ectodermal dystrophy
• APS1, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• 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-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser 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 benign recurrent intrahepatic cholestasis
• ATP8B1-related intrahepatic cholestasis, see progressive familial 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 polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune polyglandular syndrome, type 1, see autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune thrombocytopenia, see immune thrombocytopenia
• autoimmune thrombocytopenic purpura, see immune thrombocytopenia
• autoimmune thyroiditis, see Hashimoto thyroiditis
• autoinflammation, lipodystrophy, and dermatosis syndrome, see Nakajo-Nishimura syndrome
• autoinflammation, panniculitis, and dermatosis syndrome, see otulipenia
• autosomal dominant acute necrotizing encephalopathy, see acute necrotizing encephalopathy type 1
• autosomal dominant adult-onset demyelinating leukodystrophy, see autosomal dominant leukodystrophy with autonomic disease
• 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 leukodystrophy with autonomic disease
• 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