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Genetic Conditions…
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© 2006 Betterchem Corp.
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[Index] | [Continue]
- 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
- ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
- ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency
- ACG1B see achondrogenesis, type 1B
- ACG2 see achondrogenesis, type 2
- ACH see achondroplasia
- achondrogenesis, type 1B
- achondrogenesis, type 2
- 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
- acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
- AD see Alzheimer disease
- Adelaide-type craniosynostosis see Muenke syndrome
- Adenomatous Polyposis Coli see familial adenomatous polyposis
- Adenomatous Polyposis of the Colon see familial adenomatous polyposis
- 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
- Alagille syndrome
- 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
- Alport syndrome
- 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
- Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome
- Andersen syndrome see Andersen-Tawil syndrome
- Andersen-Tawil syndrome
- Anderson-Fabry Disease see Fabry disease
- androgen insensitivity syndrome
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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
- Angiomatosis retinae see von Hippel-Lindau syndrome
- ANH1 see X-linked sideroblastic anemia
- AO2 see atelosteogenesis, type 2
- 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
- Argininosuccinate lyase deficiency see argininosuccinic aciduria
- argininosuccinic aciduria
- argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria
- arginosuccinase deficiency see argininosuccinic aciduria
- ARNSHL see nonsyndromic deafness, autosomal recessive
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Arrhythmia
- Arteriohepatic Dysplasia see Alagille syndrome
- Arthro-ophthalmopathy, hereditary progressive see Stickler syndrome, COL2A1
- Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
- AS see Angelman syndrome
- ASL deficiency see argininosuccinic aciduria
- Asp deficiency see Canavan disease
- Aspa deficiency see Canavan disease
- Aspartoacylase deficiency see Canavan disease
- ataxia-telangiectasia
- atelosteogenesis, type 2
- ATS see Andersen-Tawil syndrome
- Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome see Rett syndrome
- autosomal dominant juvenile ALS see amyotrophic lateral sclerosis, type 4
- Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
- 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
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