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Metadata
ID	DOID:0051080
PURL	http://purl.obolibrary.org/obo/DOID_0051080 Copy Copied!
Name	Alport syndrome 3B
Definition	An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. https://pubmed.ncbi.nlm.nih.gov/9792860/
Xrefs	GARD:625 MIM:620536 ORDO:88919
SKOS	exactMatch MIM:620536
Subsets	DO_rare_slim
Parent Relationships	is_a Alport syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance