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: arthropathy (MONDO:0006816)
..Starting node ..secondary hypertrophic osteoarthropathy ()
Child Nodes:
Sister Nodes:
..ankylosis (disease) ()
..arthritis ()
..articular cartilage disease ()
..Behcet syndrome arthropathy ()
..Borrone di Rocco Crovato syndrome ()
..bursitis ()
..crystal arthropathy ()
..de Quervain disease ()
..ganglion or cyst of synovium/tendon/bursa ()
..hemarthrosis ()
..hydrarthrosis ()
..hypermobility syndrome ()
..neurogenic arthropathy ()
..patellofemoral pain syndrome ()
..secondary hypertrophic osteoarthropathy ()
..shoulder impingement syndrome ()
..spondyloarthropathy ()
..synovial plica syndrome ()
..synovium neoplasm ()
..temporomandibular joint disorder ()
..tenosynovitis ()
..Tietze syndrome ()
..transient arthropathy ()
..vertebral joint disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6965
Name:	secondary hypertrophic osteoarthropathy
Definition:	Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Bamberger-Marie disease; HPOA - hypertrophic pulmonary osteoarthropathy; hypertrophic pulmonary osteoarthropathy; hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]; Marie Bamberger disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal