Temple syndrome

Preferred Label : Temple syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Uniparental disomy, maternal, chromosome 14;

Inheritance : Autosomal dominant (loss of paternal allele);

Molecular basis : Caused by imprinting defect on chromosome 14q32;

Laboratory abnormalities : Hypercholesterolemia (10%); Hypertriglyceridemia (rare);

Prefixed ID : #616222;

Details

Origin ID

616222;

UMLS CUI

C4015558;

Currated CISMeF NLP mapping
- Maternal Uniparental Disomy Chromosome 14 Syndrome [NCIt concept]
- Temple syndrome [ORDO Disease]
- 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]
DO Cross reference
- Temple syndrome [DO Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Decreased testicular size [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Hydrocephalus [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Maturity-onset diabetes of the young [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Overweight [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Relative macrocephaly [HPO term]
- Scoliosis [HPO term]
- Short foot [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Sporadic [HPO term]
- Truncal obesity [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Temple syndrome [ORDO Disease]
- Temple syndrome due to maternal uniparental disomy of chromosome 14 [ORDO Disease]
- Temple syndrome due to paternal 14q32.2 hypomethylation [ORDO Disease]
- Temple syndrome due to paternal 14q32.2 microdeletion [ORDO Disease]
See also inter- (CISMeF)
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maternal Uniparental Disomy Chromosome 14 Syndrome [NCIt concept]
- Maternal uniparental disomy of chromosome 14 [ICD-11 More detail]
- Maternal uniparental disomy of chromosome 14 (disorder) [SNOMED CT concept]
- 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]

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