ZFIN Human Disease: autosomal recessive Alport syndrome

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:	GARD:625 OMIM:203780 ORDO:88919
Ontology:	Human Disease ( DOID:0110033 )

Relationships

is a type of:	Alport syndrome autosomal recessive disease Alport syndrome autosomal recessive disease Show first 5 Terms

OTHER autosomal recessive Alport syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL4A4	col4a4	Alport syndrome 2, autosomal recessive	203780

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None