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Metadata
ID DOID:0061303
PURL http://purl.obolibrary.org/obo/DOID_0061303 Copy
Name oocyte/zygote/embryo maturation arrest 1
Definition An oocyte/zygote/embryo maturation arrest that is characterized by the presence of abnormal oocytes that lack a zona pellucida and that has_material_basis_in homozygous or compound heterozygous mutation in the ZP1 gene on chromosome 11q12.2.
https://pubmed.ncbi.nlm.nih.gov/36360157/
Xrefs

MIM:615774

ORDO:404466

UMLS_CUI:C4749433

SKOS

narrowMatch ORDO:404466

narrowMatch UMLS_CUI:C4749433

Synonyms

female infertility due to zona pellucida defect [NARROW]

oocyte maturation defect 1 [EXACT]

OOMD1 [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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