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Metadata
ID DOID:0110033
Name autosomal recessive Alport syndrome
Definition An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
https://www.ncbi.nlm.nih.gov/pubmed/25575550
Xrefs

GARD:625

OMIM:203780

ORDO:88919

Parent Relationships

is_a Alport syndrome

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