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 neoplasm of peripheral nervous system (MONDO:0056804)
Parent Node: benign neoplasm of skin (MONDO:0021440)
Parent Node: benign perivascular tumor (MONDO:0003342)
Parent Node: benign soft tissue neoplasm (MONDO:0044335)
Parent Node: inherited skin tumor (MONDO:0015950)
Parent Node: inherited soft tissue tumor (MONDO:0017127)
Parent Node: muscular tumor (MONDO:0016123)
..Starting node ..myofibromatosis ()
Child Nodes:
........myofibromatosis, infantile, 1 ()
........myofibromatosis, infantile, 2 ()
Sister Nodes:
..myofibromatosis ()
..myxofibrosarcoma ()
..rhabdomyosarcoma (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16824
Name:	myofibromatosis
Definition:	A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	IMS; infantile hemangiopericytoma; infantile myofibromatosis; multicentric myofibromatosis; myofibromatosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal