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rhizomelic chondrodysplasia punctata type 2

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
Uniprot Description A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
Mondo Term and Equivalent IDs
MONDO:0009112:  rhizomelic chondrodysplasia punctata type 2
GARD:0009429: 
MESH:C537607: 
Orphanet:309796: 
UMLS:C1857242: