Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
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- 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 progressive familial intrahepatic cholestasis
- ABCB11-related intrahepatic cholestasis see benign recurrent 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 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 androgen insensitivity syndrome
- AIS see adolescent idiopathic scoliosis
- 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 Pompe disease
- AMD see age-related macular degeneration
- 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 Angelman syndrome
- AS see ankylosing spondylitis
- 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 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 Andersen-Tawil syndrome
- ATS see arterial tortuosity 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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