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Rhizomelic chondrodysplasia punctata type 2

MONDO:0009112

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.

Also known as: Dhapat deficiency, Dihydroxyacetonephosphate acyltransferase deficiency, GNPAT rhizomelic chondrodysplasia punctata, Glyceronephosphate O-acyltransferase deficiency, Gnpat deficiency, RCDP2, Rcdp2, chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Inherited lipid metabolism disorder (189) Hereditary disease (176) Eye disorder (102) Bone disorder (51) Inborn errors of metabolism (45) Human disease (14) Skeletal system disorder (4)
Trials to join now! 1 Completed 1
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  • Can a patient registry unlock the secrets of a rare bone disorder?

    Knowledge-focused Recruiting now

    This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

    Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused

    Last updated Aug 09, 2026 00:00 UTC

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