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Metadata
ID DOID:0061319
PURL http://purl.obolibrary.org/obo/DOID_0061319 Copy
Name oocyte/zygote/embryo maturation arrest 17
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation and that has_material_basis_in homozygous or compound heterozygous mutation in the KPNA7 gene on chromosome 7q22.1.
https://pubmed.ncbi.nlm.nih.gov/36647821/
Xrefs

MIM:620319

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA17 [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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