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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
 alt_id: DOID:9001327
 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        Nervous System Neoplasms 1660
          Central Nervous System Neoplasms 1333
            Brain Neoplasms 1295
              Supratentorial Neoplasms 1024
                supratentorial cancer 1024
                  diencephalic neoplasm 64
                    thalamic neoplasm 64
                      hypothalamic neoplasm 64
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
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