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: dermis disease (MONDO:0021154)
Parent Node: skin neoplasm (MONDO:0002531)
..Starting node ..dermis tumor ()
Child Nodes:
........angioma serpiginosum ()
........cutaneous fibrous histiocytoma ()
........cutaneous granular cell tumor ()
........cutaneous mastocytosis ()
........juvenile hyaline fibromatosis ()
........leiomyoma cutis ()
........malignant dermis tumor ()
........skin glomus tumor ()
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:	2300
Name:	dermis tumor
Definition:	A benign, intermediate, or malignant neoplasm that arises from the dermis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	dermal neoplasm; dermal tumor; dermis neoplasm; dermis neoplasm (disease); dermis tumor; neoplasm of dermis; neoplasm of the dermis; tumor of dermis; tumor of the dermis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal