Terminology Service for NFDI4Health
JSON

Alport Syndrome

Go to external page 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. [ ]

Term info

Label

Alport Syndrome

Synonyms
  • Alport Syndrome
  • Alport's Syndrome
  • Hereditary Nephritis
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