OBO ID: DOID:0110034
Term Name: X-linked Alport syndrome Search Ontology:
Synonyms:
  • nephropathy and deafness, X-linked
Definition: An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). https://www.ncbi.nlm.nih.gov/pubmed/2349482
References:
Ontology: Human Disease   ( DOID:0110034 )
Relationships
is a type of:
OTHER X-linked Alport syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL4A5 Alport syndrome 1, X-linked 301050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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