Blepharonasofacial malformation syndrome

Preferred Label : Blepharonasofacial malformation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Pashayan syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 110050;

Details

Origin ID

110050;

UMLS CUI

C0796197;

Automatic exact mappings (from CISMeF team)
- Blepharonasofacial syndrome [PASCAL descriptor]
Currated CISMeF NLP mapping
- Blepharonasofacial malformation syndrome [ORDO Disease]
- Blepharonasofacial malformation syndrome (disorder) [SNOMED CT concept]
- Pashayan syndrome [MeSH concept]
- pashayan syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Facial palsy [HPO term]
- Intellectual disability [HPO term]
- Mask-like facies [HPO term]
- Telecanthus [HPO term]
- Torsion dystonia [HPO term]
ORDO concept(s)
- Blepharonasofacial malformation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharonasofacial malformation syndrome [ORDO Disease]
- Blepharonasofacial malformation syndrome (disorder) [SNOMED CT concept]
- Pashayan syndrome [MeSH concept]
- pashayan syndrome [MeSH Supplementary Concept]

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