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: connective tissue disease (MONDO:0003900)
Parent Node: skeletal system disease (MONDO:0005172)
..Starting node ..bone disease ()
Child Nodes:
........Baastrup syndrome ()
........bone development disease ()
........bone fracture ()
........bone inflammation disease ()
........bone neoplasm ()
........bone remodeling disease ()
........Borrone di Rocco Crovato syndrome ()
........cervical rib ()
........congenital vascular bone syndrome ()
........disease of bone structure ()
........lysosomal storage disease with skeletal involvement ()
........osteonecrosis ()
........periostitis (disease) ()
........rare bone disease related to a common gene or pathway defect ()
........Sagliker syndrome ()
........skull disorder ()
........SLC10A7-CDG ()
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:	5381
Name:	bone disease
Definition:	Diseases of bones.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bone element disease; bone element disease or disorder; disease of bone element; disease or disorder of bone element; disorder of bone element; disorder of bone element; skeletal disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal