Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617743 http://purl.bioontology.org/ontology/OMIM/617743
Preferred Name	OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4
Synonyms	OOMD4 OOCYTE MATURATION DEFECT 4 OZEMA4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	OOMD4 OOCYTE MATURATION DEFECT 4 OZEMA4
prefLabel	OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4
Gene Symbol	PAT1A PATL2 OZEMA4
Scope Statement	Carrier males are fertile [MISCELLANEOUS] Phenotypic variability observed in affected females [MISCELLANEOUS] Caused by mutation in the PAT1 homolog 2 gene (PATL2, 614661.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU070445 http://purl.bioontology.org/ontology/OMIM/MTHU006969 http://purl.bioontology.org/ontology/OMIM/MTHU059781 http://purl.bioontology.org/ontology/OMIM/MTHU070447 http://purl.bioontology.org/ontology/OMIM/MTHU059780 http://purl.bioontology.org/ontology/OMIM/MTHU070448 http://purl.bioontology.org/ontology/OMIM/MTHU070446 See more See less
tui	T047
Gene Locus	15q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617743
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4540284
OMIM Entry Type	3
OMIM MimType Value	pound

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