Search Ontology:
Human Disease

nephronophthisis 20

Term ID
DOID:0111127
Synonyms
  • NPHP20
Definition
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/28089251
References
Ontology
Human Disease   ( DOID:0111127 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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