blepharophimosis with facial and genital anomalies and mental retardation

Preferred Label : blepharophimosis with facial and genital anomalies and mental retardation;

Origin ID

C565797;

UMLS CUI

C1858538;

Currated CISMeF NLP mapping
- Blepharophimosis with facial and genital anomalies and impaired intellectual development [OMIM Phenotype]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- genitalia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis with facial and genital anomalies and impaired intellectual development [OMIM Phenotype]
- Blepharophimosis-intellectual disability syndrome, Verloes type [ORDO Disease]