Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600121 http://purl.bioontology.org/ontology/OMIM/600121
Preferred Name	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
Synonyms	AGPS DEFICIENCY ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY RCDP3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AGPS DEFICIENCY ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY RCDP3
prefLabel	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
Gene Symbol	AGPS ADHAPS RCDP3
Scope Statement	Caused by mutation in the alkylglycerone-phosphate synthase gene (AGPS, 603051.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006618 http://purl.bioontology.org/ontology/OMIM/MTHU006623 http://purl.bioontology.org/ontology/OMIM/MTHU006622 http://purl.bioontology.org/ontology/OMIM/MTHU000041 http://purl.bioontology.org/ontology/OMIM/MTHU006620 http://purl.bioontology.org/ontology/OMIM/MTHU006621 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU006617 http://purl.bioontology.org/ontology/OMIM/MTHU072488 See more See less
tui	T047
Gene Locus	2q31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600121
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1838612
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display