MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: peripheral nervous system neoplasm (MONDO:0001406)
Parent Node: skeletal muscle disease (MONDO:0020120)
..Starting node ..skeletal muscle neoplasm ()
Child Nodes:
........muscular tumor ()
........skeletal muscle cancer ()
Sister Nodes:
..acquired skeletal muscle disease ()
..anismus ()
..Brown's tendon sheath syndrome ()
..Cyprus facial-neuromusculoskeletal syndrome ()
..diaphragm disease ()
..intellectual disability-developmental delay-contractures syndrome ()
..muscular dystrophy ()
..muscular dystrophy-white matter spongiosis syndrome ()
..myopathy due to calsequestrin and SERCA1 protein overload ()
..myopathy of extraocular muscle ()
..myotonic syndrome ()
..non-dystrophic myopathy ()
..periodic paralysis (disease) ()
..skeletal muscle neoplasm ()
..Tel Hashomer camptodactyly syndrome ()
..Volkmann contracture ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2848
Name:	skeletal muscle neoplasm
Definition:	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	neoplasm of skeletal muscle; neoplasm of skeletal muscle tissue; neoplasm of the skeletal muscle; skeletal muscle neoplasm; skeletal muscle tissue neoplasm; skeletal muscle tissue neoplasm (disease); skeletal muscle tissue tumor; skeletal muscle tumor; tumor of skeletal muscle; tumor of skeletal mus
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal