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: myofascial pain syndrome (MONDO:0006862)
Parent Node: temporomandibular joint disorder (MONDO:0005473)
..Starting node ..temporomandibular joint dysfunction syndrome ()
Child Nodes:
Sister Nodes:
..temporomandibular joint dysfunction syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21895
Name:	temporomandibular joint dysfunction syndrome
Definition:	A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.
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Synonyms:	Costen Syndrome; Costen's complex; Costen's Syndrome; Costen's syndrome; Costens Syndrome; Joint Syndrome, Temporomandibular; Mandibular dysfunction; Myofascial pain - dysfunction syndrome of TMJ; Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint; Snapping jaw; Syndrome, Costen's; Syndro
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal