MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: benign epithelial neoplasm (MONDO:0036976)
Parent Node: bone benign neoplasm (MONDO:0000631)
Parent Node: central nervous system organ benign neoplasm (MONDO:0000628)
Parent Node: disease of facial skeleton (MONDO:0023369)
Parent Node: sella turcica neoplasm (MONDO:0002720)
Parent Node: squamous cell neoplasm (MONDO:0002532)
..Starting node ..craniopharyngioma ()
Child Nodes:
........adamantinous craniopharyngioma ()
........papillary craniopharyngioma ()
Sister Nodes:
..craniopharyngioma ()
..ovarian squamous cell neoplasm ()
..squamous cell carcinoma ()
..squamous cell intraepithelial neoplasia ()
..vaginal squamous tumor ()
..vulvar squamous neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18907
Name:	craniopharyngioma
Definition:	A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Adamantinomatous tumor; craniopharyngeal duct tumor; craniopharyngioma (morphologic abnormality); craniopharyngioma (WHO grade I); craniopharyngioma, benign; cystoma; Dysodontogenic epithelial tumor; neoplasm of Rathke's pouch; Rathke pouch neoplasm; Rathke pouch tumor; Rathke's pouch neoplasm; Rath
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal