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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:Pallister-Hall syndrome
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Accession:DOID:9248 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: 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
 xref: GARD:7305;   NCI:C84987
For additional species annotation, visit the Alliance of Genome Resources.



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Pallister-Hall syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO DNA:frameshift deletions
CTD Direct Evidence: marker/mechanism
DNA:deletions
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome
OMIM
CTD
ClinVar
RGD
PMID:6641002 PMID:9054938 PMID:9148633 PMID:10441570 PMID:10945658 More... RGD:1599838, RGD:12738143, RGD:12738205, RGD:12738222 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
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: Culler-Jones syndrome OMIM
ClinVar
PMID:6726521 PMID:20685856 PMID:22967285 PMID:25741868 PMID:28492532 More... NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          Central Nervous System Neoplasms 1374
            Brain Neoplasms 1330
              Supratentorial Neoplasms 455
                supratentorial cancer 455
                  diencephalic neoplasm 61
                    thalamic neoplasm 61
                      hypothalamic neoplasm 61
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root