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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:Jalili syndrome
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Accession:DOID:0111404 term browser browse the term
Definition:A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)
Synonyms:exact_synonym: cone rod dystrophy-amelogenesis imperfecta syndrome;   cone-rod dystrophy and amelogenesis imperfecta
 primary_id: MESH:C000596385
 alt_id: DOID:9003670;   OMIM:217080
 xref: GARD:1463;   ORDO:1873
For additional species annotation, visit the Alliance of Genome Resources.


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Jalili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:15173235 PMID:19200525 PMID:19200527 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Jalili syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          eye disease 2665
            retinal disease 783
              retinal degeneration 468
                fundus dystrophy 339
                  retinitis pigmentosa 270
                    Jalili syndrome 1
paths to the root