whistling face syndrome, recessive form

Preferred Label : whistling face syndrome, recessive form;

Origin ID

C536699;

UMLS CUI

C1848470;

Currated CISMeF NLP mapping
- Whistling face syndrome, recessive form [OMIM Phenotype]
Has phenotype(s) (HPO)
- High nasal bridge [HPO term]
- High-arched palate [HPO term]
- Knee contractures [HPO term]
MeSH term(s) associated for indexing
- craniofacial dysostosis [MeSH Descriptor]
Record concept(s)
- Whistling face syndrome, recessive form [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Whistling face syndrome, recessive form [OMIM Phenotype]