Online Mendelian Inheritance in Man - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/222765 http://purl.bioontology.org/ontology/OMIM/222765
Preferred Name	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
Synonyms	PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY DHAPAT DEFICIENCY DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY GNPAT DEFICIENCY RCDP2 CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY DHAPAT DEFICIENCY DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY GNPAT DEFICIENCY RCDP2 CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY See more See less
prefLabel	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
Gene Symbol	GNPAT DHAPAT RCDP2
Scope Statement	Caused by mutation in the glyceronephosphate O-acyltransferase gene (GNPAT, 602744.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010214 http://purl.bioontology.org/ontology/OMIM/MTHU013430 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU002014 http://purl.bioontology.org/ontology/OMIM/MTHU013429 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU002002 http://purl.bioontology.org/ontology/OMIM/MTHU009025 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000031 http://purl.bioontology.org/ontology/OMIM/MTHU001499 http://purl.bioontology.org/ontology/OMIM/MTHU005888 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001101 http://purl.bioontology.org/ontology/OMIM/MTHU013431 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU013428 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU000606 http://purl.bioontology.org/ontology/OMIM/MTHU013432 See more See less
tui	T047
Gene Locus	1q42
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	222765
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1857242
OMIM Entry Type	3
OMIM MimType Value	pound

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