Disease Description

UMLS CUI C1567744
UMLS Term Alport Syndrome, Autosomal Recessive
MeSH ID D009394
MeSH Term Nephritis, Hereditary
Disease Classes

Male Urogenital Diseases

Female Urogenital Diseases and Pregnancy Complications

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Skin and Connective Tissue Diseases

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

COL4A3

collagen, type IV, alpha 3 (Goodpasture antigen)

1285

Q01955

chr2: 227,164,565-227,314,792