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: ligament disease (MONDO:0045044)
Parent Node: skeletal system disease (MONDO:0005172)
..Starting node ..skeletal ligament disease ()
Child Nodes:
........Achilles bursitis ()
Sister Nodes:
..arthropathy ()
..bone disease ()
..bone marrow disease ()
..cartilage disease ()
..flatfoot ()
..mixed connective tissue disease ()
..necrosis of ear ossicle ()
..ossification of the posterior longitudinal ligament of the spine ()
..patellar tendinitis ()
..rare odontologic disease ()
..rheumatic fever ()
..skeletal ligament disease ()
..skeletal tuberculosis ()
..sternal neoplasm ()
..symphalangism ()
..tooth disease ()
..vertebral column disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	45004
Name:	skeletal ligament disease
Definition:	A disease or disorder that involves the skeletal ligament.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of skeletal ligament; disease or disorder of skeletal ligament; disorder of skeletal ligament; disorder of skeletal ligament; skeletal ligament disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal