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Human Disease

autosomal recessive Alport syndrome

Term ID
DOID:0110033
Synonyms
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
Ontology
Human Disease   ( DOID:0110033 )
Relationships
is a type of
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Genes Involved
Zebrafish Models