Maternal Uniparental Disomy Chromosome 14 Syndrome

Preferred Label : Maternal Uniparental Disomy Chromosome 14 Syndrome;

NCIt synonyms : Temple Syndrome;

NCIt related terms : mUPD14 Syndrome;

NCIt definition : A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.;

Alternative definition : NICHD: A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother and no copy of chromosome 14 from the father.;

Details

Origin ID

C120409;

UMLS CUI

C4015558;

Currated CISMeF NLP mapping
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Temple syndrome [ORDO Disease]
- Temple syndrome [OMIM Phenotype]
- Temple syndrome [DO Concept]
- Temple syndrome (disorder) [SNOMED CT concept]
- Temple syndrome due to maternal uniparental disomy of chromosome 14 [ORDO Disease]
DO Cross reference
- Temple syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Maternal uniparental disomy of chromosome 14 (disorder) [SNOMED CT concept]
- Temple syndrome [OMIM Phenotype]
- Temple syndrome [DO Concept]
- Temple syndrome [MeSH Supplementary Concept]
- Temple syndrome (disorder) [SNOMED CT concept]
- Temple syndrome due to maternal uniparental disomy of chromosome 14 [ORDO Disease]
Validated automatic mappings to BTNT
- Temple syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 14 [NCIt concept]

Keyword's position in hierarchy(ies) :

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