Frontonasal dysplasia with alar clefts

Preferred Label : Frontonasal dysplasia with alar clefts;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Alar-nasal cartilages, coloboma of, with telecanthus;

Inheritance : Autosomal recessive;

Prefixed ID : 203000;

Details

Origin ID

203000;

UMLS CUI

C1859964;

Currated CISMeF NLP mapping
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) [SNOMED CT concept]
- coloboma of alar-nasal cartilages with telecanthus [MeSH concept]
- coloboma of alar-nasal cartilages with telecanthus [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft ala nasi [HPO term]
- Cleft ala nasi [HPO term]
- Telecanthus [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome [ORDO Disease]
- coloboma of alar-nasal cartilages with telecanthus [MeSH Supplementary Concept]
- coloboma of alar-nasal cartilages with telecanthus [MeSH concept]

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