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: adenocarcinoma (MONDO:0004970)
Parent Node: granular cell cancer (MONDO:0003252)
..Starting node ..granular cell carcinoma ()
Child Nodes:
Sister Nodes:
..granular cell carcinoma ()
..granular cell leiomyosarcoma ()
..malignant cutaneous granular cell skin tumor ()
..malignant gastric granular cell tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3197
Name:	granular cell carcinoma
Definition:	An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	granular cell adenocarcinoma; granular cell carcinoma; granular cell carcinoma (morphologic abnormality)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SMOC2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal