Search Ontology:
Human Disease

autosomal dominant Alport syndrome

Term ID
DOID:0110032
Synonyms
Definition
An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. https://www.ncbi.nlm.nih.gov/pubmed/11044206
References
  • GARD:624
  • MIM:104200
  • ORDO:88918
Ontology
Human Disease   ( DOID:0110032 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations