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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:Culler-Jones syndrome
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Accession:DOID:0080328 term browser browse the term
Definition:A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. (DO)
Synonyms:exact_synonym: CJS;   PHS2;   Pallister-Hall syndrome 2
 broad_synonym: GLI2-RELATED CONDITION;   GLI2-RELATED DISORDER
 primary_id: OMIM:615849
 xref: GARD:13349


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Culler-Jones syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Culler-Jones syndrome		 OMIM
CTD
ClinVar		 PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 More... NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    syndrome 10388
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        central nervous system disease 12117
          Central Nervous System Neoplasms 1431
            Brain Neoplasms 1382
              Supratentorial Neoplasms 492
                supratentorial cancer 492
                  diencephalic neoplasm 40
                    hypothalamic neoplasm 40
                      Pallister-Hall syndrome 2
                        Culler-Jones syndrome 1
paths to the root