Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619643
http://purl.bioontology.org/ontology/OMIM/619643
Preferred Name

OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11
Synonyms
OOMD11
OOCYTE MATURATION DEFECT 11
OZEMA11
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
OOMD11
OOCYTE MATURATION DEFECT 11
OZEMA11
prefLabel
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11
Gene Symbol
OZEMA11
ASTL
Scope Statement
Based on report of 2 affected Saudi sisters (last curated November 2021) [MISCELLANEOUS]
Caused by mutation in the astacin-like metalloendopeptidase gene (ASTL, 608860.0001) [MOLECULAR BASIS]
Poor embryonic outcomes [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
2q11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619643
Semantic type UMLS property
Has inheritance type
cui
C5562033
OMIM Entry Type
3
OMIM MimType Value
pound
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