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Y-Z
A-alphalipoprotein Neuropathy
see
Tangier disease
A-T
see
ataxia-telangiectasia
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
AAT
see
alpha-1 antitrypsin deficiency
AB variant
see
GM2-gangliosidosis, AB variant
abetalipoproteinemia
Absence of vas deferens
see
congenital bilateral absence of the vas deferens
Absent vasa
see
congenital bilateral absence of the vas deferens
ACADM deficiency
see
medium-chain acyl-coenzyme A dehydrogenase deficiency
ACADS deficiency
see
short-chain acyl-coenzyme A dehydrogenase deficiency
ACADVL
see
very long-chain acyl-coenzyme A dehydrogenase deficiency
acanthocytosis
see
abetalipoproteinemia
acanthocytosis with neurologic disorder
see
chorea-acanthocytosis
ACCPN
see
Andermann syndrome
aceruloplasminemia
ACH
see
achondroplasia
achondrogenesis
achondroplasia
Acid ceramidase deficiency
see
Farber lipogranulomatosis
Acid lipase deficiency
see
Wolman disease
Acid Maltase Deficiency Disease
see
Pompe disease
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
ACS III
see
Saethre-Chotzen syndrome
ACS V
see
Pfeiffer syndrome
ACS3
see
Saethre-Chotzen syndrome
ACS5
see
Pfeiffer syndrome
Activator Deficiency/GM2 Gangliosidosis
see
GM2-gangliosidosis, AB variant
Activator-deficient Tay-Sachs disease
see
GM2-gangliosidosis, AB variant
ACY2 deficiency
see
Canavan disease
acyl-CoA dehydrogenase very long chain deficiency
see
very long-chain acyl-coenzyme A dehydrogenase deficiency
AD
see
Alzheimer disease
ADA deficiency
see
adenosine deaminase deficiency
ADA-SCID
see
adenosine deaminase deficiency
Addison's Disease
see
autoimmune polyglandular syndrome, type 1
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
ADLTE
see
autosomal dominant partial epilepsy with auditory features
ADPEAF
see
autosomal dominant partial epilepsy with auditory features
Adrenal Gland Disorders
Adrenal hypoplasia congenita
see
X-linked adrenal hypoplasia congenita
Adrenogenital Syndrome
see
21-hydroxylase deficiency
Adrenoleukodystrophy
see
X-linked adrenoleukodystrophy
Adrenomyeloneuropathy
see
X-linked adrenoleukodystrophy
Adult premature aging syndrome
see
Werner syndrome
Adult Progeria
see
Werner syndrome
Adynamia Episodica Hereditaria
see
hyperkalemic periodic paralysis
AGA deficiency
see
aspartylglucosaminuria
Agammaglobulinemia
see
X-linked agammaglobulinemia
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
Aglucosidase alfa
see
Pompe disease
AI
see
amelogenesis imperfecta
AIRE deficiency
see
autoimmune polyglandular syndrome, type 1
AIS
see
androgen insensitivity syndrome
AKU
see
alkaptonuria
Alagille syndrome
Albinism
Albinism, Ocular
see
ocular albinism
Albinism, Oculocutaneous
see
oculocutaneous albinism
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
ALD (Adrenoleukodystrophy)
see
X-linked adrenoleukodystrophy
Aldrich Syndrome
see
Wiskott-Aldrich syndrome
Alexander disease
alkaptonuria
Allan-Herndon-Dudley syndrome
Allan-Herndon syndrome
see
Allan-Herndon-Dudley syndrome
ALMS
see
Alström 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-coenzyme A 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-D-mannosidosis
see
alpha-mannosidosis
Alpha-fucosidase deficiency
see
fucosidosis
Alpha-galactosidase A deficiency
see
Fabry disease
alpha High Density Lipoprotein Deficiency Disease
see
Tangier disease
Alpha-L-iduronidase deficiency
see
mucopolysaccharidosis type I
alpha-mannosidase B deficiency
see
alpha-mannosidosis
alpha-mannosidase deficiency
see
alpha-mannosidosis
alpha-mannosidosis
alpha-Methylacetoacetic aciduria
see
beta-ketothiolase deficiency
Alport syndrome
ALS
see
amyotrophic lateral sclerosis
Alström syndrome
ALX
see
Alexander disease
Alzheimer disease
Alzheimer's Disease
see
Alzheimer disease
amelogenesis imperfecta
Amino Acid Metabolism, Inborn Errors
Amino Acid Transport Disorders, Inborn
Aminoacylase 2 deficiency
see
Canavan disease
Amish lethal microcephaly
AMP deaminase deficiency
see
adenosine monophosphate deaminase deficiency
Amyloid Neuropathies, Familial
see
transthyretin amyloidosis
amyotrophic lateral sclerosis
anal-ear-renal-radial malformation syndrome
see
Townes-Brocks Syndrome
Analphalipoproteinemia
see
Tangier disease
Andermann syndrome
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, hereditary sideroblastic
see
X-linked sideroblastic anemia
Anemia, sex-linked hypochromic sideroblastic
see
X-linked sideroblastic anemia
Anemia, Sideroblastic
see
X-linked sideroblastic anemia
anesthesia related hyperthermia
see
malignant hyperthermia
Angelman syndrome
Angiohemophilia
see
von Willebrand disease
Angiokeratoma Corporis Diffusum
see
Fabry 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
ankylosing spondylitis
anosmic hypogonadism
see
Kallmann syndrome
anosmic idiopathic hypogonadotropic hypogonadism
see
Kallmann syndrome
AO2
see
atelosteogenesis type 2
APC resistance, Leiden type
see
factor V Leiden thrombophilia
APECED
see
autoimmune polyglandular syndrome, type 1
Apert syndrome
Apolipoprotein B deficiency
see
abetalipoproteinemia
Appelt-Gerken-Lenz syndrome
see
Roberts syndrome
APS type 1
see
autoimmune polyglandular syndrome, type 1
APS1
see
autoimmune polyglandular syndrome, type 1
AR deficiency
see
androgen insensitivity syndrome
ARG1 deficiency
see
arginase deficiency
arginase 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
aromatic l-amino acid decarboxylase deficiency
Arrhythmia
ARSA deficiency
see
metachromatic leukodystrophy
ARSACS
see
autosomal recessive spastic ataxia of Charlevoix-Saguenay
arteriohepatic dysplasia (AHD)
see
Alagille syndrome
Arteriovenous Malformations
see
hereditary hemorrhagic telangiectasia
Arthrogryposis
see
congenital contractural arachnodactyly
Arylsulfatase A Deficiency Disease
see
metachromatic leukodystrophy
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
asphyxiating thoracic dystrophy
ataxia-telangiectasia
Ataxia with Lactic Acidosis, Type II
see
pyruvate carboxylase deficiency
ataxia with oculomotor apraxia
ataxia with vitamin E deficiency
atelosteogenesis type 2
ATM
see
ataxia-telangiectasia
Atrio-digital syndrome
see
Holt-Oram syndrome
Atriodigital dysplasia
see
Holt-Oram syndrome
Atrophia bulborum hereditaria
see
Norrie disease
ATS
see
Andersen-Tawil syndrome
Auricular Fibrillation
see
familial atrial fibrillation
Autism
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
see
Rett syndrome
Autoimmune Diseases
autoimmune polyglandular syndrome, type 1
Autonomic Nervous System Disorders
Autosomal Dominant Hereditary Spastic Paraplegia
see
spastic paraplegia type 4
Autosomal dominant Opitz G/BBB syndrome
see
22q11.2 deletion syndrome
autosomal dominant Opitz syndrome (ADOS)
see
Opitz G/BBB syndrome
autosomal dominant partial epilepsy with auditory features
Autosomal Recessive Hereditary Spastic Paraplegia
see
spastic paraplegia type 7
;
Troyer syndrome
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see
Pendred syndrome
autosomal recessive spastic ataxia of Charlevoix-Saguenay
AVED
see
ataxia with vitamin E deficiency
AxD
see
Alexander disease
Ayerza Syndrome
see
pulmonary arterial hypertension
Published: January 23, 2009