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ONTOLOGY REPORT - ANNOTATIONS


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. (DO)
Synonyms:exact_synonym: CJS;   PALLISTER-HALL SYNDROME 2;   PHS2
 primary_id: OMIM:615849
 alt_id: DOID:9001327;   RDO:9000374;   RDO:9001061
 xref: GARD:13349
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Culler-Jones syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Neoplasms 1758
          Central Nervous System Neoplasms 1008
            Brain Neoplasms 966
              Supratentorial Neoplasms 851
                supratentorial cancer 851
                  diencephalic neoplasm 70
                    thalamic neoplasm 70
                      hypothalamic neoplasm 70
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.