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: benign connective and soft tissue neoplasm (MONDO:0000654)
Parent Node: soft tissue neoplasm (MONDO:0006424)
..Starting node ..benign soft tissue neoplasm ()
Child Nodes:
........angiomyxoma ()
........benign PEComa ()
........benign synovial neoplasm ()
........endobronchial lipoma ()
........endometrial stromal nodule ()
........lipoblastoma ()
........myofibromatosis ()
........myxoma ()
........soft tissue chondroma ()
Sister Nodes:
..benign soft tissue neoplasm ()
..central nervous system mesenchymal non-meningothelial tumor ()
..congenital epulis ()
..desmoid tumor ()
..fibromyxoid tumor ()
..glomus tumor ()
..inflammatory myofibroblastic tumor ()
..juvenile hyaline fibromatosis ()
..kaposiform hemangioendothelioma ()
..malignant soft tissue neoplasm ()
..Mazabraud syndrome ()
..mediastinal mesenchymal tumor ()
..melanoma of soft tissue ()
..mixed endometrial stromal and smooth muscle tumor ()
..neoplasm with perivascular epithelioid cell differentiation ()
..nodular fasciitis ()
..soft tissue amyloid neoplasm ()
..synovium neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	44335
Name:	benign soft tissue neoplasm
Definition:	A non-metastasizing neoplasm that arises from the soft tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign neoplasm of soft tissue; benign neoplasm of the soft tissue; benign soft tissue neoplasm; benign soft tissue tumor; benign tumor of soft tissue; benign tumor of the soft tissue; soft tissue neoplasm, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal