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: ischemic disease (MONDO:0005053)
Parent Node: limb disorder (MONDO:0044967)
..Starting node ..limb ischemia ()
Child Nodes:
Sister Nodes:
..Achilles bursitis ()
..amelia of lower limb ()
..amelia of upper limb ()
..cancer affecting bone of limb skeleton ()
..cancer of short bone of lower limb ()
..chondromalacia patellae ()
..digital papillary eccrine carcinoma ()
..epicondylitis ()
..femoral neuropathy ()
..femoral vein thrombophlebitis ()
..fibroosseous pseudotumor of the digits ()
..foot disease ()
..hand disease ()
..hemarthrosis ()
..hip fracture ()
..humerus fracture ()
..limb ischemia ()
..livedoid vasculopathy ()
..median nerve neuropathy ()
..mononeuritis of lower limb ()
..nail disease ()
..neoplasm of femur ()
..neuritis of upper limb ()
..olecranon bursitis ()
..patellar tendinitis ()
..patellofemoral pain syndrome ()
..phalanx chondroma ()
..plantar nerve lesion ()
..radial neuropathy ()
..synovial plica syndrome ()
..tibia fracture ()
..tibialis tendinitis ()
..ulna fracture ()
..ulnar neuropathy ()
..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:	491
Name:	limb ischemia
Definition:	A ischemia that involves the limb.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ischemic disease of limb; limb ischemia; limb ischemic disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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