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 fracture (MONDO:0005315)
Parent Node: limb disorder (MONDO:0044967)
..Starting node ..hip fracture ()
Child Nodes:
........femoral neck fracture ()
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:	5327
Name:	hip fracture
Definition:	Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal