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Metadata
ID DOID:0061318
PURL http://purl.obolibrary.org/obo/DOID_0061318 Copy
Name oocyte/zygote/embryo maturation arrest 16
Definition An oocyte/zygote/embryo maturation arrest that is characterized by female infertility due to embryonic arrest at the 2- to 5-cell stage and that has_material_basis_in homozygous or compound heterozygous mutation in the PADI6 gene on chromosome 1p36.13.
https://pubmed.ncbi.nlm.nih.gov/27545678/
Xrefs

MIM:617234

ORDO:488191

UMLS_CUI:C5567489

SKOS

narrowMatch UMLS_CUI:C5567489

narrowMatch ORDO:488191

Synonyms

female infertility due to oocyte meiotic arrest [NARROW]

OZEMA16 [EXACT]

preimplantation embryonic lethality 2 [EXACT]

PREMBL2 [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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