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: osteonecrosis (MONDO:0005380)
Parent Node: spondyloarthropathy (MONDO:0005095)
Parent Node: vertebral disease (MONDO:0045002)
..Starting node ..Kummell disease ()
Child Nodes:
Sister Nodes:
..Kummell disease ()
..spondylitis ()
..spondylolysis (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3940
Name:	Kummell disease
Definition:	Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	avascular necrosis of a vertebral body; bony vertebral centrum osteonecrosis; Kummell disease; Kummell's disease; Kummell's spondylitis; osteonecrosis of bony vertebral centrum; traumatic spondylopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal