blepharophimosis with ptosis, syndactyly, and short stature

Preferred Label : blepharophimosis with ptosis, syndactyly, and short stature;

Origin ID

C536235;

UMLS CUI

C1859432;

Currated CISMeF NLP mapping
- Blepharophimosis with ptosis, syndactyly, and short stature [OMIM Phenotype]
Has phenotype(s) (HPO)
- Full lips [HPO term]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
Record concept(s)
- Blepharophimosis with ptosis, syndactyly, and short stature [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis with ptosis, syndactyly, and short stature [OMIM Phenotype]
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome [ORDO Disease]