GeneReviews
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Aceruloplasminemia
- Achondrogenesis Type 1B
- Achondroplasia
- Achromatopsia
- Acid Sphingomyelinase Deficiency
- Acute Intermittent Porphyria
- ADAMTSL4-Related Eye Disorders
- Adenine Phosphoribosyltransferase Deficiency
- Adenosine Deaminase Deficiency
- Adrenoleukodystrophy, X-Linked
- Adult Polyglucosan Body Disease
- Aicardi Syndrome
- Aicardi-Goutieres Syndrome
- AIP-Related Familial Isolated Pituitary Adenomas
- Alagille Syndrome
- Alexander Disease
- ALK-Related Neuroblastoma Susceptibility
- Alkaptonuria
- Alpha-Mannosidosis
- Alpha-Thalassemia
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- Alpha1-Antitrypsin Deficiency
- Alport Syndrome and Thin Basement Membrane Nephropathy
- ALS2-Related Disorders
- Alstrom Syndrome
- Alzheimer Disease
- Amish Lethal Microcephaly
- Amyotrophic Lateral Sclerosis
- Andersen-Tawil Syndrome
- Androgen Insensitivity Syndrome
- Angelman Syndrome
- Aniridia
- Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
- ANO5-Related Muscle Diseases
- Anophthalmia/Microphthalmia
- APC-Associated Polyposis Conditions
- Arginase Deficiency
- Argininosuccinate Lyase Deficiency
- Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
- ARSACS
- Arts Syndrome
- Arylsulfatase A Deficiency
- Ataxia with Oculomotor Apraxia 1
- Ataxia with Oculomotor Apraxia 2
- Ataxia with Vitamin E Deficiency
- Ataxia-Telangiectasia
- Atelosteogenesis Type II
- ATP6V0A2-Related Cutis Laxa
- ATP7A-Related Copper Transport Disorders
- Atypical Hemolytic-Uremic Syndrome
- Autism Spectrum Disorders
- Autoimmune Lymphoproliferative Syndrome
- Autosomal Dominant Hyper IgE Syndrome
- Autosomal Dominant Partial Epilepsy with Auditory Features
- Autosomal Recessive Congenital Ichthyosis
- Baller-Gerold Syndrome
- Bardet-Biedl Syndrome
- Beckwith-Wiedemann Syndrome
- Berardinelli-Seip Congenital Lipodystrophy
- Best Vitelliform Macular Dystrophy
- Beta-Thalassemia
- Bietti Crystalline Dystrophy
- Biotinidase Deficiency
- Birt-Hogg-Dube Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus
- Bloom's Syndrome
- Branchiooculofacial Syndrome
- Branchiootorenal Spectrum Disorders
- BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
- Brugada Syndrome
- BSCL2-Related Neurologic Disorders/Seipinopathy