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Alport Syndrome

^ http://purl.obolibrary.org/obo/NCIT_C34842


A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. [ NCI ]

Synonyms: Hereditary Nephritis, Alport's Syndrome, Alport Syndrome

Term info

Subsets

NCIT_C90259, NCIT_C123272

ALT DEFINITION

A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

Legacy Concept Name

Alport_s_Syndrome

NICHD Hierarchy Term

Alport Syndrome

Preferred Name

Alport Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C1567741

code

C34842