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: integumentary system cancer (MONDO:0000653)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..skin cancer ()
Child Nodes:
........CD4+/CD56+ hematodermic neoplasm ()
........cutaneous melanoma (disease) ()
........eyelid cancer ()
........labia minora cancer ()
........labium majus cancer ()
........malignant dermis tumor ()
........prepuce cancer ()
........primary cutaneous lymphoma ()
........sebaceous gland cancer ()
........skin carcinoma ()
........skin meningioma ()
........sweat gland cancer ()
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:	2898
Name:	skin cancer
Definition:	A malignant neoplasm involving the zone of skin
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	CA - skin cancer; cancer of skin; cancer of zone of skin; malignant neoplasm of skin; malignant neoplasm of the skin; malignant neoplasm of zone of skin; malignant skin neoplasm; malignant skin tumor; malignant tumor of skin; malignant tumor of the skin; malignant zone of skin neoplasm; melanoma and
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: FGFR2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal