Online Mendelian Inheritance in Man - CARPENTER SYNDROME 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/201000 http://purl.bioontology.org/ontology/OMIM/201000
Preferred Name	CARPENTER SYNDROME 1
Synonyms	CARPENTER SYNDROME ACPS II ACROCEPHALOPOLYSYNDACTYLY TYPE II CRPT1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CARPENTER SYNDROME ACPS II ACROCEPHALOPOLYSYNDACTYLY TYPE II CRPT1
prefLabel	CARPENTER SYNDROME 1
Gene Symbol	RAB23
Scope Statement	Caused by mutation in the Ras-associated protein RAB23 gene (RAB23, 606144.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU036626 http://purl.bioontology.org/ontology/OMIM/MTHU037224 http://purl.bioontology.org/ontology/OMIM/MTHU036568 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU037101 http://purl.bioontology.org/ontology/OMIM/MTHU014798 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU007082 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU005345 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU014799 http://purl.bioontology.org/ontology/OMIM/MTHU014796 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU005530 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU014794 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU014804 http://purl.bioontology.org/ontology/OMIM/MTHU000261 http://purl.bioontology.org/ontology/OMIM/MTHU014795 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001182 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU001440 http://purl.bioontology.org/ontology/OMIM/MTHU014800 http://purl.bioontology.org/ontology/OMIM/MTHU014805 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU014802 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU002221 http://purl.bioontology.org/ontology/OMIM/MTHU014803 http://purl.bioontology.org/ontology/OMIM/MTHU000250 http://purl.bioontology.org/ontology/OMIM/MTHU009306 http://purl.bioontology.org/ontology/OMIM/MTHU014797 http://purl.bioontology.org/ontology/OMIM/MTHU037223 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	6p11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	201000
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4551510 C1275078
OMIM Entry Type	3
OMIM MimType Value	pound

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