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: bone disease (MONDO:0005381)
..Starting node ..bone inflammation disease ()
Child Nodes:
........arthritis ()
........Caffey disease ()
........epicondylitis ()
........mastoiditis (disease) ()
........Osgood-Schlatter disease ()
........osteomyelitis (disease) ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2614
Name:	bone inflammation disease
Definition:	Inflammation of the bone.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bone inflammatory disease; inflammatory disorder of bone; osteitis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: DPM1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal