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Metadata
ID DOID:0061312
PURL http://purl.obolibrary.org/obo/DOID_0061312 Copy
Name oocyte/zygote/embryo maturation arrest 10
Definition An oocyte/zygote/embryo maturation arrest that is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus and that has_material_basis_in homozygous mutation in the REC114 gene on chromosome 15q24.1.
https://pubmed.ncbi.nlm.nih.gov/31704776/
Xrefs

MIM:619176

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

oocyte maturation defect 10 [EXACT]

OOMD10 [EXACT]

OZEMA1 [EXACT]

Parent Relationships

is_a oocyte/zygote/embryo maturation arrest

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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