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A-alphalipoprotein Neuropathy see Tangier disease
A-T see ataxia-telangiectasia
AADC deficiency see aromatic l-amino acid decarboxylase deficiency
AASA dehydrogenase deficiency see pyridoxine-dependent epilepsy
AAT see alpha-1 antitrypsin deficiency
AB variant see GM2-gangliosidosis, AB variant
abetalipoproteinemia
Abnormalities, Multiple
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 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-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
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
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
Alcaptonuria see alkaptonuria
Alexander disease
alkaptonuria
Allan-Herndon-Dudley syndrome
Allan-Herndon syndrome see Allan-Herndon-Dudley 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-galactosidase A deficiency see Fabry 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
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
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-Fabry Disease see Fabry 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
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
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
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 see Timothy syndrome
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome
Autoimmune Diseases
autoimmune polyglandular syndrome, type 1
Autonomic Nervous System Disorders see familial dysautonomia
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 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


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