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A-T
see
ataxia-telangiectasia
AAT
see
alpha-1 antitrypsin deficiency
Absence of vas deferens
see
congenital bilateral absence of vas deferens
Absent vasa
see
congenital bilateral absence of vas deferens
ACG2
see
achondrogenesis, type II
ACH
see
achondroplasia
achondrogenesis, type II
achondroplasia
Acid beta-glucosidase deficiency
see
Gaucher disease, type 1
Acrocephalosyndactyly (Apert)
see
Apert syndrome
acrocephalosyndactyly, type V
see
Pfeiffer syndrome
Acrocephaly
see
Apert syndrome
Acute cerebral Gaucher's disease
see
Gaucher disease, type 2
acute intermittent porphyria
ACY2 deficiency
see
Canavan disease
AD
see
Alzheimer disease
Adelaide-type craniosynostosis
see
Muenke syndrome
ADP
see
ALAD deficiency porphyria
Adrenal Gland Disorders
see
21-hydroxylase deficiency
Adrenogenital Syndrome
see
21-hydroxylase deficiency
AIP
see
acute intermittent porphyria
AIS
see
androgen insensitivity syndrome
AKU
see
alkaptonuria
5-ALA dehydratase-deficient porphyria
see
ALAD deficiency porphyria
ALA-D porphyria
see
ALAD deficiency porphyria
ALA dehydratase porphyria
see
ALAD deficiency porphyria
ALAD deficiency porphyria
Alcaptonuria
see
alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis
see
alkaptonuria
alpha-1 antitrypsin deficiency
Alpha-galactosidase A deficiency
see
Fabry disease
alpha-1 proteinase inhibitor
see
alpha-1 antitrypsin deficiency
alpha-1 related emphysema
see
alpha-1 antitrypsin deficiency
ALS
see
amyotrophic lateral sclerosis
Alström syndrome
ALX
see
Alexander disease
Alzheimer disease
Alzheimer's Caregivers
see
Alzheimer disease
Alzheimer's Disease
see
Alzheimer disease
Amino levulinic acid dehydratase deficiency
see
ALAD deficiency porphyria
Aminoacylase 2 deficiency
see
Canavan disease
5-aminolaevulinic dehydratase deficiency porphyria
see
ALAD deficiency porphyria
amyotrophic lateral sclerosis
Anderson-Fabry Disease
see
Fabry disease
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see
X-linked sideroblastic anemia
Anemia, sex-linked hypochromic sideroblastic
see
X-linked sideroblastic anemia
Anemia, splenic, familial
see
Gaucher disease
Angelman syndrome
Angiokeratoma Corporis Diffusum
see
Fabry disease
Angiokeratoma diffuse
see
Fabry disease
ANH1
see
X-linked sideroblastic anemia
APC resistance, Leiden type
see
factor V Leiden thrombophilia
Apert syndrome
AR-CMT2
see
Charcot-Marie-Tooth disease, type 2
AR deficiency
see
androgen insensitivity syndrome
Arachnodactyly
see
Marfan syndrome
ARNSHL
see
nonsyndromic deafness, autosomal recessive
Arthro-ophthalmopathy
see
Stickler syndrome
Arthrochalasis multiplex congenita
see
Ehlers-Danlos syndrome, arthrochalasia type
AS
see
Angelman syndrome
Asp deficiency
see
Canavan disease
Aspa deficiency
see
Canavan disease
Aspartoacylase deficiency
see
Canavan disease
ataxia-telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
see
Rett syndrome
autosomal dominant juvenile ALS
see
amyotrophic lateral sclerosis, type 4
autosomal recessive form of juvenile ALS type 3
see
amyotrophic lateral sclerosis, type 2
Autosomal recessive nonsyndromic hearing loss
see
nonsyndromic deafness, autosomal recessive
Autosomal Recessive Sensorineural Hearing Impairment and Goiter
see
Pendred syndrome
AxD
see
Alexander disease
Ayerza Syndrome
see
primary pulmonary hypertension
Published: October 8, 2004
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