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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


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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:15994174 PMID:20685856 PMID:22967285 PMID:23408573 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 21089
    syndrome 10784
      Pallister-Hall syndrome 2
        Culler-Jones syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          Central Nervous System Neoplasms 1393
            Brain Neoplasms 1348
              Supratentorial Neoplasms 463
                supratentorial cancer 463
                  diencephalic neoplasm 62
                    thalamic neoplasm 62
                      hypothalamic neoplasm 62
                        Pallister-Hall syndrome 2
                          Culler-Jones syndrome 1
paths to the root