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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

Disease Browser
Parent Node: Growth Disorders (D006130)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Tibial Fractures (D013978)
..Starting node ..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
Child Nodes:
Sister Nodes:
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10618
Name:	Spondylometaphyseal dysplasia, 'corner fracture' type
Definition:
Alternative IDs:
ParentIDs:	MESH:D006130\|MESH:D010009\|MESH:D013978
TreeNumbers:	C05.116.099.708/C535793 \|C23.550.393/C535793 \|C26.404.875/C535793 \|C26.558.857/C535793
Synonyms:	Spondylometaphyseal Dysplasia, Corner Fracture Type \|Spondylometaphyseal Dysplasia, Sutcliffe Type
Slim Mappings:	Musculoskeletal disease\|Pathology (process)\|Wounds and injuries
Reference:	MedGen: C535793 MeSH: C535793 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants