Search Ontology:
Human Disease

nephronophthisis 2

Term ID
DOID:0111113
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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