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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:craniopharyngioma
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Accession:DOID:3840 term browser browse the term
Definition:A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)
Synonyms:exact_synonym: Adult Craniopharyngiomas;   Child Craniopharyngioma;   Child Craniopharyngiomas;   Craniopharyngiomas;   Rathke Cleft Neoplasm;   Rathke Pouch Tumor;   Rathke's Cleft Neoplasm;   Rathke's Pouch Tumor;   Rathkes Cleft Neoplasm;   Rathkes pouch tumor;   adult craniopharyngioma;   neoplasm of Rathke's pouch
 narrow_synonym: Adamantinous Craniopharyngioma;   Adamantinous Craniopharyngiomas;   Papillary Craniopharyngioma;   Papillary Craniopharyngiomas
 primary_id: MESH:D003397
 alt_id: RDO:0005290
 xref: GARD:10486;   NCI:C2964
For additional species annotation, visit the Alliance of Genome Resources.



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craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Craniopharyngioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha disease_progression IEP RGD PMID:20190664 RGD:11080971 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21669
    disease of cellular proliferation 8374
      Neoplasms by Histologic Type 5484
        Germ Cell and Embryonal Neoplasms 958
          neuroectodermal tumor 864
            craniopharyngioma 8
              adamantinous craniopharyngioma 0
              papillary craniopharyngioma 0
Path 2
Term Annotations click to browse term
  disease 21669
    disease of cellular proliferation 8374
      benign neoplasm 2160
        organ system benign neoplasm 1187
          nervous system benign neoplasm 776
            central nervous system benign neoplasm 731
              craniopharyngioma 8
                adamantinous craniopharyngioma 0
                papillary craniopharyngioma 0
paths to the root