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: sebaceous gland cancer (MONDO:0037735)
Parent Node: skin appendage carcinoma (MONDO:0006973)
..Starting node ..sebaceous adenocarcinoma ()
Child Nodes:
........ocular sebaceous carcinoma ()
........sebaceous breast carcinoma ()
........vulvar sebaceous carcinoma ()
Sister Nodes:
..sebaceous adenocarcinoma ()
..skin pilomatrix carcinoma ()
..sweat gland carcinoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6962
Name:	sebaceous adenocarcinoma
Definition:	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenocarcinoma of the sebaceous gland; adenocarcinoma, sebaceous, malignant; carcinoma of sebaceous gland; carcinoma of the sebaceous gland; malignant neoplasm of sebaceous gland; malignant sebaceous tumor; Seba; sebaceous cancer; sebaceous carcinoma; sebaceous gland adenocarcinoma; sebaceous gland
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal