Pierre robin syndrome and oligodactyly

Preferred Label : Pierre robin syndrome and oligodactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Robin sequence and oligodactyly;

Inheritance : Autosomal dominant; ? same as postaxial acrofacial dysostosis syndrome (263750);

Prefixed ID : 172880;

Détails

Origin ID

172880;

UMLS CUI

C1868309;

Currated CISMeF NLP mapping
- Robin sequence and oligodactyly [MeSH concept]
- Robin sequence and oligodactyly syndrome (disorder) [SNOMED CT concept]
- Robin sequence-oligodactyly syndrome [ORDO Disease]
- robin sequence and oligodactyly [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Hand oligodactyly [HPO term]
- Micrognathia [HPO term]
- Pierre-Robin sequence [HPO term]
ORDO concept(s)
- Robin sequence-oligodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Robin sequence and oligodactyly [MeSH concept]
- Robin sequence-oligodactyly syndrome [ORDO Disease]
- robin sequence and oligodactyly [MeSH Supplementary Concept]

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

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