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Metadata
ID DOID:10983
PURL http://purl.obolibrary.org/obo/DOID_10983 Copy
Name Alport syndrome
Definition A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.
http://en.wikipedia.org/wiki/Alport_syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1207/
Xrefs

GARD:5785

MESH:D009394

MIM:PS301050

ORDO:63

SNOMEDCT_US_2025_09_01:57333009

UMLS_CUI:C0027706

Subsets

DO_MGI_slim

DO_rare_slim

Synonyms

Hereditary Nephritis [EXACT]

Parent Relationships

is_a monogenic disease

is_a syndrome

Subclass Logical Relationships

disease has basis in some gene

has phenotype some Abnormal glomerular filtration rate

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