OBO ID: DOID:0111113
Term Name: nephronophthisis 2 Search Ontology:
Synonyms:
  • infantile nephronophthisis 2
  • NPH2
  • NPHP2
Definition: A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/12872123
References:
Ontology: Human Disease   ( DOID:0111113 )
Relationships
is a type of:
inverse disjoint_from:
OTHER nephronophthisis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
INVS Nephronophthisis 2, infantile 602088
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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