Oocyte/zygote/embryo maturation arrest 16

Preferred Label : Oocyte/zygote/embryo maturation arrest 16;

Symbol : OZEMA16;

CISMeF acronym : PREMBL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PREMBL2; Preimplantation embryonic lethality 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the peptidylarginine deiminase, type VI gene (PADI6, 610363.0001);

Prefixed ID : #617234;

Détails

Origin ID

617234;

UMLS CUI

C4310659;

Genes related to phenotype
- Peptidylarginine deiminase, type VI [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Infertility [HPO term]
- Preimplantation lethality [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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