MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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)
Parent Node: limb disorder (MONDO:0044967)
..Starting node ..hemarthrosis ()
Child Nodes:
Sister Nodes:
..Achilles bursitis ()
..amelia of lower limb ()
..amelia of upper limb ()
..cancer affecting bone of limb skeleton ()
..cancer of short bone of lower limb ()
..chondromalacia patellae ()
..digital papillary eccrine carcinoma ()
..epicondylitis ()
..femoral neuropathy ()
..femoral vein thrombophlebitis ()
..fibroosseous pseudotumor of the digits ()
..foot disease ()
..hand disease ()
..hemarthrosis ()
..hip fracture ()
..humerus fracture ()
..limb ischemia ()
..livedoid vasculopathy ()
..median nerve neuropathy ()
..mononeuritis of lower limb ()
..nail disease ()
..neoplasm of femur ()
..neuritis of upper limb ()
..olecranon bursitis ()
..patellar tendinitis ()
..patellofemoral pain syndrome ()
..phalanx chondroma ()
..plantar nerve lesion ()
..radial neuropathy ()
..synovial plica syndrome ()
..tibia fracture ()
..tibialis tendinitis ()
..ulna fracture ()
..ulnar neuropathy ()
..Volkmann contracture ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4431
Name:	hemarthrosis
Definition:	Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	haemarthrosis of shoulder joint; haemarthrosis of the ankle and foot; haemarthrosis of the pelvic region and thigh; hemarthrosis involving ankle and foot; hemarthrosis involving forearm; hemarthrosis involving hand; hemarthrosis involving lower leg; hemarthrosis involving pelvic region and thigh; he
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ALX4;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal