OBO ID: DOID:0110033
Term Name: autosomal recessive Alport syndrome Search Ontology:
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)
OTHER autosomal recessive Alport syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL4A3 Alport syndrome 2, autosomal recessive 203780
COL4A4 Alport syndrome 2, autosomal recessive 203780
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None