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Metadata
ID DOID:0061308
PURL http://purl.obolibrary.org/obo/DOID_0061308 Copy
Name oocyte/zygote/embryo maturation arrest 6
Definition An oocyte/zygote/embryo maturation arrest that is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes and that has_material_basis_in homozygous mutation in the ZP2 gene on chromosome 16p12.3-p12.2.
https://pubmed.ncbi.nlm.nih.gov/29895852/
Xrefs

MIM:618353

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 6 [EXACT]

OOMD6 [EXACT]

OZEMA6 [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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