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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:nephronophthisis 14
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Accession:DOID:0111122 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)
Synonyms:exact_synonym: NPHP14
 narrow_synonym: JBTS19;   JOUBERT SYNDROME 19
 primary_id: OMIM:614844;   RDO:9000604
For additional species annotation, visit the Alliance of Genome Resources.

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nephronophthisis 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by OMIM:614844
ClinVar Annotator: match by term: Nephronophthisis 14
PMID:22863007, PMID:25741868, PMID:26539891, PMID:28492532 NCBI chr19:20,147,201...20,405,999
Ensembl chr19:20,147,037...20,406,003
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      ciliopathy 236
        Joubert syndrome 77
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                nephronophthisis 43
                  nephronophthisis 14 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.