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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: Camurati-Engelmann Syndrome (D003966)
..Starting node ..Diaphyseal dysplasia 1, progressive (C538411)
Child Nodes:
Sister Nodes:
..Camurati Engelmann disease, type 2 (C537978)
..Camurati-Engelmann Disease, Type II (C564689)
..Diaphyseal dysplasia 1, progressive (C538411)
..Ribbing disease (C537613)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3336
Name:	Diaphyseal dysplasia 1, progressive
Definition:
Alternative IDs:
ParentIDs:	MESH:D003966
TreeNumbers:	C05.116.099.708.180/C538411 \|C16.320.144/C538411
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C538411 MeSH: C538411 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants