Term:Culler-Jones syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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 14875
    syndrome 4220
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        Nervous System Neoplasms 1673
          Central Nervous System Neoplasms 997
            Brain Neoplasms 955
              Supratentorial Neoplasms 841
                supratentorial cancer 841
                  diencephalic neoplasm 70
                    thalamic neoplasm 70
                      hypothalamic neoplasm 70
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.