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Y-Z
A-alphalipoprotein Neuropathy
see
Tangier disease
A-T
see
ataxia-telangiectasia
AAA
see
triple A syndrome
AADC deficiency
see
aromatic l-amino acid decarboxylase deficiency
Aarskog-Scott syndrome
Aarskog syndrome
see
Aarskog-Scott syndrome
AAS
see
Aarskog-Scott syndrome
AASA dehydrogenase deficiency
see
pyridoxine-dependent epilepsy
Aase-Smith syndrome II
see
Diamond-Blackfan anemia
Aase syndrome
see
Diamond-Blackfan anemia
AAT
see
alpha-1 antitrypsin deficiency
AB variant
see
GM2-gangliosidosis, AB variant
ABCB4-related intrahepatic cholestasis
see
progressive familial intrahepatic cholestasis
ABCB11-related intrahepatic cholestasis
see
benign recurrent intrahepatic cholestasis
;
progressive familial intrahepatic cholestasis
abdominal wall defect
abetalipoproteinemia
Absence of vas deferens
see
congenital bilateral absence of the vas deferens
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
see
genitopatellar syndrome
Absent vasa
see
congenital bilateral absence of the vas deferens
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
ACCPN
see
Andermann syndrome
ACD
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
achondroplasia
Acid ceramidase deficiency
see
Farber lipogranulomatosis
Acid lipase deficiency
see
Wolman disease
acid maltase deficiency
see
Pompe disease
acne inversa
see
hidradenitis suppurativa
Acoustic Neuroma
see
neurofibromatosis type 2
Acral dysostosis with facial and genital abnormalities
see
Robinow syndrome
Acrocephalosyndactylia
Acrocephalosyndactyly (Apert)
see
Apert syndrome
acrocephalosyndactyly III
see
Saethre-Chotzen 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
acrofacial dysostosis 1, Nager type
see
Nager syndrome
ACS III
see
Saethre-Chotzen syndrome
ACS V
see
Pfeiffer syndrome
ACS3
see
Saethre-Chotzen syndrome
ACS5
see
Pfeiffer syndrome
actin-accumulation myopathy
actin filament aggregate myopathy
see
actin-accumulation myopathy
actin myopathy
see
actin-accumulation myopathy
Activator Deficiency/GM2 Gangliosidosis
see
GM2-gangliosidosis, AB variant
Activator-deficient Tay-Sachs disease
see
GM2-gangliosidosis, AB variant
acute infectious polyneuritis
see
Guillain-Barré syndrome
acute inflammatory polyneuropathy
see
Guillain-Barré syndrome
Acute Myeloid Leukemia
acute promyelocytic leukemia
ACY2 deficiency
see
Canavan disease
acyl-CoA dehydrogenase very long chain deficiency
see
very long-chain acyl-CoA dehydrogenase deficiency
AD
see
Alzheimer disease
ADA deficiency
see
adenosine deaminase deficiency
ADA-SCID
see
adenosine deaminase deficiency
Adamantiades-Behcet disease
see
Behçet disease
Addison's Disease
adenine phosphoribosyltransferase deficiency
Adenomatosis, Familial Endocrine
see
multiple endocrine neoplasia
Adenomatous Polyposis Coli
see
familial adenomatous polyposis
Adenomatous Polyposis of the Colon
see
familial adenomatous polyposis
adenosine deaminase deficiency
adenosine monophosphate deaminase deficiency
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 myoclonic epilepsy
see
juvenile myoclonic epilepsy
ADPEAF
see
autosomal dominant partial epilepsy with auditory features
Adrenal Gland Disorders
adrenal hyperplasia, hypertensive form
see
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Adrenal hypoplasia congenita
see
X-linked adrenal hypoplasia congenita
Adrenoleukodystrophy
see
X-linked adrenoleukodystrophy
Adrenomyeloneuropathy
see
X-linked adrenoleukodystrophy
adult neuronal ceroid lipofuscinosis
see
Kufs disease
adult-onset leukodystrophy with neuroaxonal spheroids
see
hereditary diffuse leukoencephalopathy with spheroids
adult polyglucosan body disease
Adult premature aging syndrome
see
Werner syndrome
Adult Progeria
see
Werner syndrome
adult Refsum disease
see
Refsum disease
Adynamia Episodica Hereditaria
see
hyperkalemic periodic paralysis
AEC syndrome
see
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
AEG syndrome
see
SOX2 anophthalmia syndrome
AFD1
see
Nager syndrome
afibrinogenemia
see
congenital afibrinogenemia
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
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
AGL deficiency
see
glycogen storage disease type III
agnogenic myeloid metaplasia
see
primary myelofibrosis
AGS
see
Aicardi-Goutieres syndrome
aHUS
see
atypical hemolytic-uremic syndrome
AI
see
amelogenesis imperfecta
Aicardi-Goutieres syndrome
Aicardi syndrome
AIRE deficiency
see
autoimmune polyglandular syndrome, type 1
AIS
see
androgen insensitivity syndrome
AKU
see
alkaptonuria
Alacrima-achalasia-adrenal insufficiency neurologic disorder
see
triple A syndrome
alactasia
see
lactose intolerance
Alagille syndrome
Albinism
Albinism, Ocular
see
ocular albinism
Albinism, Oculocutaneous
see
oculocutaneous albinism
Albright hereditary osteodystrophy-like syndrome
see
2q37 deletion syndrome
Albright-McCune-Sternberg syndrome
see
McCune-Albright syndrome
Albright-Sternberg syndrome
see
McCune-Albright syndrome
Albright Syndrome
see
McCune-Albright syndrome
Albright's disease
see
McCune-Albright syndrome
Alcaptonuria
see
alkaptonuria
alcohol-responsive dystonia
see
myoclonus-dystonia
ALD (Adrenoleukodystrophy)
see
X-linked adrenoleukodystrophy
ALDOB deficiency
see
hereditary fructose intolerance
aldolase B deficiency
see
hereditary fructose intolerance
aldosteronism with hyperplasia of the adrenal cortex
see
Bartter syndrome
Alexander disease
alkaptonuria
Allan-Herndon-Dudley syndrome
Allan-Herndon syndrome
see
Allan-Herndon-Dudley syndrome
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-Huttenlocher syndrome
Alpers progressive infantile poliodystrophy
see
Alpers-Huttenlocher syndrome
Alpers syndrome
see
Alpers-Huttenlocher syndrome
alpha-1,4-glucosidase deficiency
see
Pompe disease
alpha-1 antitrypsin deficiency
2-alpha-methyl-3-hydroxybutyricacidemia
see
beta-ketothiolase deficiency
3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency
see
3-hydroxyacyl-CoA dehydrogenase deficiency
3-alpha-ketothiolase deficiency
see
beta-ketothiolase deficiency
3-alpha-ktd deficiency
see
beta-ketothiolase deficiency
3-alpha-oxothiolase deficiency
see
beta-ketothiolase deficiency
5-alpha reductase deficiency
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 High Density Lipoprotein Deficiency Disease
see
Tangier disease
alpha-mannosidase B deficiency
see
alpha-mannosidosis
alpha-mannosidase deficiency
see
alpha-mannosidosis
alpha-mannosidosis
alpha-Methylacetoacetic aciduria
see
beta-ketothiolase deficiency
alpha-N-acetylgalactosaminidase deficiency
see
Schindler disease
alpha-NAGA deficiency
see
Schindler disease
alpha thalassemia
alpha thalassemia X-linked intellectual disability syndrome
Alport syndrome
ALPS
see
autoimmune lymphoproliferative syndrome
ALS
see
amyotrophic lateral sclerosis
Alström syndrome
alveolar capillary dysplasia with misalignment of pulmonary veins
ALX
see
Alexander disease
Alzheimer disease
Alzheimer's Disease
see
Alzheimer disease
amaurosis, Leber congenital
see
Leber congenital amaurosis
AMCD1
see
distal arthrogryposis type 1
AMD
see
age-related macular degeneration
;
Pompe disease
amelogenesis imperfecta
Amino Acid Metabolism, Inborn Errors
Amino Acid Transport Disorders, Inborn
Aminoacylase 2 deficiency
see
Canavan disease
Amish brittle hair syndrome
see
trichothiodystrophy
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
amyloidosis due to mutant gelsolin
see
lattice corneal dystrophy type II
amyloidosis, Finnish type
see
lattice corneal dystrophy type II
amyloidosis, Meretoja type
see
lattice corneal dystrophy type II
amyloidosis V
see
lattice corneal dystrophy type II
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 syndrome
see
Andersen-Tawil syndrome
Andersen-Tawil syndrome
Anderson disease
see
chylomicron retention disease
Anderson-Fabry disease
see
Fabry disease
Anderson syndrome
see
chylomicron retention disease
Anderson-Warburg syndrome
see
Norrie disease
androgen insensitivity syndrome
androgenetic alopecia
Androgenic alopecia
see
androgenetic alopecia
Anemia
Anemia, Dyserythropoietic, Congenital
see
congenital dyserythropoietic anemia
Anemia, hereditary sideroblastic
see
X-linked sideroblastic anemia
Anemia, Megaloblastic
see
thiamine-responsive megaloblastic anemia syndrome
Anemia, sex-linked hypochromic sideroblastic
see
X-linked sideroblastic anemia
Anemia, Sideroblastic
anencephalia
see
anencephaly
anencephalus
see
anencephaly
anencephaly
anesthesia related hyperthermia
see
malignant hyperthermia
Aneurysms
Angelman-like syndrome, X-linked
see
Christianson syndrome
Angelman 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
aniridia
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
Anophthalmos
see
SOX2 anophthalmia syndrome
anosmic hypogonadism
see
Kallmann syndrome
anosmic idiopathic hypogonadotropic hypogonadism
see
Kallmann syndrome
ANS
see
ataxia neuropathy spectrum
Antithrombin III Deficiency
see
hereditary antithrombin deficiency
Antley-Bixler syndrome-like phenotype with disordered steroidogenesis
see
cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with disordered steroidogenesis
see
cytochrome P450 oxidoreductase deficiency
AO2
see
atelosteogenesis type 2
AOI
see
atelosteogenesis type 1
AOIII
see
atelosteogenesis type 3
Aortic Aneurysm
aortic stenosis, supravalvular
see
supravalvular aortic stenosis
APBD
see
adult polyglucosan body disease
APC resistance, Leiden type
see
factor V Leiden thrombophilia
APECED
see
autoimmune polyglandular syndrome, type 1
Apert syndrome
APL
see
acute promyelocytic leukemia
Aplastic Anemia
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
AR deficiency
see
androgen insensitivity syndrome
Arakawa syndrome 1
see
glutamate formiminotransferase deficiency
ARCA1
see
autosomal recessive cerebellar ataxia type 1
ARD
see
Refsum disease
ARG1 deficiency
see
arginase deficiency
arginase deficiency
arginine:glycine amidinotransferase deficiency
Argininemia
see
arginase deficiency
Argininosuccinate lyase deficiency
see
argininosuccinic aciduria
argininosuccinic aciduria
argininosuccinyl-CoA lyase deficiency
see
argininosuccinic aciduria
arginosuccinase deficiency
see
argininosuccinic aciduria
ARMD
see
age-related macular degeneration
aromatic l-amino acid decarboxylase deficiency
Arrhythmia
arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia
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 syndrome
arteriohepatic dysplasia (AHD)
see
Alagille syndrome
Arteriovenous Malformations
Arthritis
arthritis, juvenile rheumatoid
see
juvenile idiopathic arthritis
arthrocutaneouveal granulomatosis
see
Blau syndrome
Arthrogryposis
arthrogryposis, distal, type 1
see
distal arthrogryposis type 1
Arts syndrome
ARVC
see
arrhythmogenic right ventricular cardiomyopathy
ARVD
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
;
ankylosing spondylitis
ASA
see
argininosuccinic aciduria
ASL deficiency
see
argininosuccinic aciduria
Asp deficiency
see
Canavan disease
Aspa deficiency
see
Canavan disease
Aspartoacylase deficiency
see
Canavan disease
aspartylglucosamidase deficiency
see
aspartylglucosaminuria
Aspartylglucosaminidase deficiency
see
aspartylglucosaminuria
aspartylglucosaminuria
Asperger syndrome
Asperger's Syndrome
see
Asperger syndrome
asphyxiating thoracic dystrophy
asymbolia for pain
see
congenital insensitivity to pain
asymmetric hypoplasia of facial structures
see
craniofacial microsomia
ataxia-deafness-optic atrophy, lethal
see
Arts syndrome
ataxia, fatal X-linked, with deafness and loss of vision
see
Arts syndrome
ataxia neuropathy spectrum
ataxia-telangiectasia
ataxia-telangiectasia variant 1
see
Nijmegen breakage syndrome
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
atelosteogenesis type 1
atelosteogenesis type 2
atelosteogenesis type 3
Atherosclerosis
ATM
see
ataxia-telangiectasia
ATP8B1-related intrahepatic cholestasis
see
benign recurrent intrahepatic cholestasis
;
progressive familial intrahepatic cholestasis
ATR-X syndrome
see
alpha thalassemia X-linked intellectual disability syndrome
Atrial Fibrillation
see
familial atrial fibrillation
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
;
arterial tortuosity syndrome
Attention Deficit Hyperactivity Disorder
see
48,XXYY syndrome
atypical hemolytic-uremic syndrome
atypical Philadelphia-negative chronic myeloid leukemia
see
PDGFRB-associated chronic eosinophilic leukemia
auditory vertigo
see
Ménière disease
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
Autism
autism-dementia-ataxia-loss of purposeful hand use syndrome
see
Rett syndrome
Autoimmune Diseases
autoimmune lymphoproliferative syndrome
autoimmune polyglandular syndrome, type 1
Autonomic Nervous System Disorders
autosomal dominant cerebrovascular amyloidosis
see
hereditary cerebral amyloid angiopathy
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 Spastic Paraplegia
see
spastic paraplegia type 4
autosomal dominant leukoencephalopathy with neuroaxonal spheroids
see
hereditary diffuse leukoencephalopathy with spheroids
autosomal dominant MYH9 spectrum disorders
see
MYH9-related disorder
autosomal dominant myotubular myopathy
see
centronuclear myopathy
autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant Opitz G/BBB syndrome
see
22q11.2 deletion syndrome
autosomal dominant Opitz syndrome (ADOS)
see
Opitz G/BBB syndrome
autosomal dominant optic atrophy
see
optic atrophy type 1
autosomal dominant partial epilepsy with auditory features
autosomal dominant porencephaly type 1
see
familial porencephaly
autosomal dominant spastic paraplegia 8
see
spastic paraplegia type 8
autosomal recessive centronuclear myopathy
see
centronuclear myopathy
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 chronic granulomatous disease
see
chronic granulomatous disease
Autosomal recessive craniometaphyseal dysplasia
see
craniometaphyseal dysplasia
autosomal recessive distal spinal muscular atrophy 1
see
spinal muscular atrophy with respiratory distress type 1
Autosomal Recessive Hereditary Spastic Paraplegia
see
spastic paraplegia type 7
;
Troyer syndrome
autosomal recessive infantile parkinsonism
see
tyrosine hydroxylase deficiency
autosomal recessive Larsen syndrome
see
CHST3-related skeletal dysplasia
autosomal recessive primary microcephaly
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see
Pendred syndrome
autosomal recessive spastic ataxia of Charlevoix-Saguenay
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
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-Rieger syndrome
Axenfeld syndrome
see
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
Published: February 11, 2013