Search Ontology:
Human Disease

nephronophthisis 1

Term ID
DOID:0111112
Synonyms
  • juvenile nephronophthisis 1
  • NPH1
  • NPHP1
Definition
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (2)
References
Ontology
Human Disease   ( DOID:0111112 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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