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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
 primary_id: OMIM:615849
 xref: GARD:13349
For additional species annotation, visit the Alliance of Genome Resources.


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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 family zinc finger 2 ISO ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
ClinVar Annotator: match by term: Culler-Jones syndrome
OMIM
ClinVar
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:25741868 PMID:31292255 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        Nervous System Neoplasms 1688
          Central Nervous System Neoplasms 1366
            Brain Neoplasms 1307
              Supratentorial Neoplasms 440
                supratentorial cancer 440
                  diencephalic neoplasm 61
                    thalamic neoplasm 61
                      hypothalamic neoplasm 61
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root