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: disease by anatomical system (MONDO:0021199)
..Starting node ..musculoskeletal system disease ()
Child Nodes:
........autoimmune disease of musculoskeletal system ()
........enthesopathy ()
........fasciitis (disease) ()
........ligament disease ()
........muscular disease ()
........musculoskeletal disease with cataract ()
........musculoskeletal system benign neoplasm ()
........musculoskeletal system cancer ()
........myocardial disorder ()
........skeletal system disease ()
........synovium disease ()
........tendinopathy ()
Sister Nodes:
..cardiovascular disease ()
..digestive system disease ()
..disease of genitourinary system ()
..endocrine system disease ()
..hematologic disease ()
..immune system disease ()
..integumentary system disease ()
..mediastinal disease ()
..musculoskeletal system disease ()
..nervous system disorder ()
..respiratory system disease ()
..sensory system disease ()
..urinary system disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2081
Name:	musculoskeletal system disease
Definition:	A disease involving the musculoskeletal system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of musculoskeletal system; disease or disorder of musculoskeletal system; disorder of musculoskeletal system; disorder of musculoskeletal system; musculoskeletal disease; musculoskeletal disorder; musculoskeletal system disease; musculoskeletal system disease or disorder; musculoskeletal sys
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal