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Metadata
ID DOID:0061327
PURL http://purl.obolibrary.org/obo/DOID_0061327 Copy
Name oocyte/zygote/embryo maturation arrest 25
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to embryo maturation arrest and that has_material_basis_in heterozygous mutation in the NLRP7 gene on chromosome 19q13.42.
https://pubmed.ncbi.nlm.nih.gov/37148315/
Xrefs

MIM:621471

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA25 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a oocyte/zygote/embryo maturation arrest

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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