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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 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniopharyngioma
CTD
ClinVar
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    disease of cellular proliferation 7086
      Neoplasms by Histologic Type 4797
        Germ Cell and Embryonal Neoplasms 773
          neuroectodermal tumor 676
            craniopharyngioma 8
              adamantinous craniopharyngioma 0
              papillary craniopharyngioma 0
Path 2
Term Annotations click to browse term
  disease 17427
    disease of cellular proliferation 7086
      benign neoplasm 1964
        organ system benign neoplasm 1099
          nervous system benign neoplasm 712
            central nervous system benign neoplasm 655
              craniopharyngioma 8
                adamantinous craniopharyngioma 0
                papillary craniopharyngioma 0
paths to the root