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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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:Joubert syndrome 4
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Accession:DOID:0110999 term browser browse the term
Definition:A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: JBTS4;   Joubert syndrome with renal defect
 xref: GARD:10169;   MESH:C536296;   MIM:609583;   MONDO:0012308


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Joubert syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Joubert syndrome with renal defect ClinVar PMID:25741868 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect
CTD Direct Evidence: marker/mechanism
associated with Kidney Diseases, Cystic;DNA:mutation		 OMIM
ClinVar
CTD
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      ciliopathy 1027
        Joubert syndrome 416
          Joubert syndrome 4 4
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              retinal disease 1401
                retinal degeneration 854
                  Joubert syndrome 4 4
paths to the root