Search Ontology:
Human Disease
autosomal recessive Alport syndrome
- Term ID
- DOID:0110033
- Synonyms
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- 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
- References
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- GARD:625
- MIM:203780
- ORDO:88919
- Ontology
- Human Disease ( DOID:0110033 )
- is a type of
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Genes Involved
Zebrafish Models