ONTOLOGY REPORT - ANNOTATIONS


Term:Pallister-Hall syndrome
go back to main search page
Accession:DOID:9248 term browser browse the term
Definition:A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.
Synonyms:exact_synonym: A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14.;   CAVE Complices;   CAVE complex;   Cerebroacrovisceral Early Lethality Complex;   Hypothalamic Hamartoblastoma Syndrome;   Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly;   PHS;   hypothalamic hamartoblastoma syndromes
 primary_id: MESH:D054975
 alt_id: OMIM:146510;   RDO:0000181
 xref: GARD:7305
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Pallister-Hall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:1599838
RGD:7240710
RGD:8554872
RGD:11554173
RGD:12738143
RGD:12738205
RGD:12738222
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 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
        central nervous system disease 6913
          Central Nervous System Neoplasms 997
            central nervous system cancer 945
              brain cancer 929
                supratentorial cancer 841
                  diencephalic neoplasm 70
                    thalamic neoplasm 70
                      hypothalamic neoplasm 70
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root

NHLBI Logo

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