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Alport syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018965

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. [ NCIT:C34842 ]

Term info

database cross reference
  • MESH:D009394 (Orphanet:63/e)
  • MedDRA:10001843 (Orphanet:63/e)
  • UMLS:C1567741 (Orphanet:63/e)
  • ICD10CM:Q87.81 (MONDO:equivalentTo)
  • NCIT:C34842 (MONDO:equivalentTo)
  • DOID:10983 (MONDO:equivalentTo)
  • OMIMPS:301050 (MONDO:equivalentTo)
  • Orphanet:63 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3367

closeMatch

http://identifiers.org/meddra/10001843

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_63, http://purl.obolibrary.org/obo/NCIT_C34842, http://purl.obolibrary.org/obo/DOID_10983, http://linkedlifedata.com/resource/umls/id/C1567741, https://omim.org/phenotypicSeries/PS301050, http://purl.bioontology.org/ontology/ICD10CM/Q87.81

has broad synonym

hereditary nephritis

has exact synonym

Alport deafness-nephropathy, Alport syndrome, Alport's syndrome

id

MONDO:0018965