Search Ontology:
Human Disease

nephronophthisis-like nephropathy 1

Term ID
DOID:0111117
Synonyms
  • NPHPL1
Definition
A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. https://www.ncbi.nlm.nih.gov/pubmed/20179356
References
Ontology
Human Disease   ( DOID:0111117 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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