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Metadata
ID DOID:0061317
PURL http://purl.obolibrary.org/obo/DOID_0061317 Copy
Name oocyte/zygote/embryo maturation arrest 15
Definition An oocyte/zygote/embryo maturation arrest that is characterized by severely impaired zygote formation despite ovulation proceeding normally and retrieved oocytes appearing normal that has_material_basis_in homozygous mutation in the TLE6 gene on chromosome 19p13.3.
https://pubmed.ncbi.nlm.nih.gov/26537248/
Xrefs

MIM:616814

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA15 [EXACT]

preimplantation embryonic lethality 1 [EXACT]

PREMBL [EXACT]

PREMBL1 [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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