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rhizomelic chondrodysplasia punctata

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


Explore Associated Targets
Mondo Description Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.
Disease Ontology Description A chondrodysplasia punctata that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.
Mondo Term and Equivalent IDs
MONDO:0015776:  rhizomelic chondrodysplasia punctata
GARD:0013160: 
ICD10:E71.540: 
MESH:D018902: 
NCIT:C85047: 
OMIMPS:215100: 
Orphanet:177: 
SCTID:56692003: 
UMLS:C0282529: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)