Trigonocephaly 1

Preferred Label : Trigonocephaly 1;

Symbol : TRIGNO1;

CISMeF acronym : TRIGNO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniosynostosis, metopic;

Description : Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). - Genetic Heterogeneity of Isolated Trigonocephaly Also see trigonocephaly-2 (TRIGNO2; 614485), caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1, 136350.0011);

Prefixed ID : #190440;

Détails

Origin ID

190440;

UMLS CUI

C0432122;

Automatic exact mappings (from CISMeF team)
- Metopic synostosis [HPO term]
- Trigonocephaly [ICD-11 More detail]
- trigonocephaly, nonsyndromic [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Interfrontal craniofaciosynostosis (disorder) [SNOMED CT concept]
- Non-syndromic metopic craniosynostosis [ORDO Disease]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Craniosynostosis [HPO term]
- Hypotelorism [HPO term]
- Long penis [HPO term]
- Lumbar hemivertebrae [HPO term]
- Meckel diverticulum [HPO term]
- Microcephaly [HPO term]
- Omphalocele [HPO term]
- Preauricular skin tag [HPO term]
- Synophrys [HPO term]
- Trigonocephaly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Non-syndromic metopic craniosynostosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Interfrontal craniofaciosynostosis (disorder) [SNOMED CT concept]
- trigonocephaly, nonsyndromic [MeSH Supplementary Concept]
- trigonocephaly, nonsyndromic [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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