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Metadata
ID DOID:0061322
PURL http://purl.obolibrary.org/obo/DOID_0061322 Copy
Name oocyte/zygote/embryo maturation arrest 20
Definition An oocyte/zygote/embryo maturation arrest that is characterized by early embryonic arrest with fragmentation and that has_material_basis_in homozygous or compound heterozygous mutation in the MOS gene on chromosome 8q12.1.
https://pubmed.ncbi.nlm.nih.gov/35670744/, https://pubmed.ncbi.nlm.nih.gov/34779126/
Xrefs

MIM:620383

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA20 [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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