Search Ontology:
Human Disease

nephronophthisis 12

Term ID
DOID:0111119
Synonyms
  • NPHP12
Definition
A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/21258341
References
Ontology
Human Disease   ( DOID:0111119 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations