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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 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;   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
ClinVar Annotator: match by OMIM:146510
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pallister-Hall syndrome
DNA:deletions
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
CTD
PMID:9054938, PMID:9148633, PMID:10441570, PMID:10945658, PMID:12545275, PMID:15739154, PMID:21532573, PMID:24736735, PMID:25741868, PMID:28492532, PMID:9054938, PMID:11978771, PMID:24736735, PMID:15739154 RGD:1599838, RGD:12738143, RGD:12738205, RGD:12738222 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521, PMID:15994174, PMID:20685856, PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          Central Nervous System Neoplasms 1340
            central nervous system cancer 1291
              brain cancer 1275
                supratentorial cancer 1023
                  diencephalic neoplasm 60
                    thalamic neoplasm 60
                      hypothalamic neoplasm 60
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root

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