Oocyte Maturation Defect-4

Preferred Label : Oocyte Maturation Defect-4;

NCIt synonyms : OOMD4;

NCIt definition : An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.;

NCI Metathesaurus CUI : CL786775;

Details

Origin ID

C188145;

UMLS CUI

C4540284;

Currated CISMeF NLP mapping
- Oocyte/zygote/embryo maturation arrest 4 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oocyte/zygote/embryo maturation arrest 4 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PATL2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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