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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: Arachnodactyly (D054119)
Parent Node: Joint Instability (D007593)
Parent Node: Spondylolisthesis (D013168)
..Starting node ..Jaffer Beighton syndrome (C537561)
Child Nodes:
Sister Nodes:
..Jaffer Beighton syndrome (C537561)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5938
Name:	Jaffer Beighton syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007593\|MESH:D013168\|MESH:D054119
TreeNumbers:	C05.116.900.938.500.500/C537561 \|C05.550.521/C537561 \|C05.660.585.174/C537561 \|C16.131.621.585.174/C537561
Synonyms:	Arachnodactyly, joint laxity, and spondylolisthesis
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C537561 MeSH: C537561 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants