Oocyte/zygote/embryo maturation arrest 4

Preferred Label : Oocyte/zygote/embryo maturation arrest 4;

Symbol : OZEMA4;

CISMeF acronym : OOMD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oocyte maturation defect 4; OOMD4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PAT1 homolog 2 gene (PATL2, 614661.0001);

Prefixed ID : #617743;

Details

Origin ID

617743;

UMLS CUI

C4540284;

Currated CISMeF NLP mapping
- Oocyte Maturation Defect-4 [NCIt concept]
Genes related to phenotype
- Pat1 homolog 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Infertility [HPO term]
ORDO concept(s)
- Female infertility due to oocyte meiotic arrest [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oocyte Maturation Defect-4 [NCIt concept]

Keyword's position in hierarchy(ies) :

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