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: skin appendage disease (MONDO:0024481)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..epidermal appendage tumor ()
Child Nodes:
........dyskeratosis congenita ()
........hair follicle neoplasm ()
........hamartoma of skin appendage ()
........sebaceous gland neoplasm ()
........skin appendage carcinoma ()
........sweat gland neoplasm ()
........woolly hair nevus ()
Sister Nodes:
..actinic keratosis (disease) ()
..benign dermal neurilemmoma ()
..benign neoplasm of skin ()
..calcifying epithelial odontogenic tumor ()
..cutaneous ganglioneuroma ()
..dermis tumor ()
..dermoid cyst of skin ()
..epidermal appendage tumor ()
..epithelial skin neoplasm ()
..eyelid neoplasm ()
..familial Dupuytren contracture ()
..hemangiopericytoma of skin ()
..inherited skin tumor ()
..melanocytic skin neoplasm ()
..skin cancer ()
..skin tag ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2297
Name:	epidermal appendage tumor
Definition:	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adnexal neoplasm of skin; adnexal neoplasm of the skin; adnexal tumor of skin; adnexal tumor of the skin; cutaneous adnexal neoplasm; cutaneous appendage neoplasm; cutaneous appendage neoplasm (disease); cutaneous appendage tumor; Epidermal appendage neoplasm; Epidermal appendage tumor; neoplasm of
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal