Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620332 http://purl.bioontology.org/ontology/OMIM/620332
Preferred Name	OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18
Synonyms	OZEMA18
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OZEMA18
prefLabel	OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18
Gene Symbol	PYPAF2 OZEMA18 PAN1 NALP2 NLRP2
Scope Statement	Caused by mutation in the NLR family, pyrin domain-containing-2 gene (NLRP2, 609364.0001) [MOLECULAR BASIS] Based on a report of 2 patients with nonsense mutations (last curated April 2023) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU072777
tui	T047
Gene Locus	19q13.4
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620332
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5830441
OMIM Entry Type	3
OMIM MimType Value	pound

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