blepharophimosis with facial and genital anomalies and mental retardation

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0566097;

UMLS CUI

C1858538;

Currated CISMeF NLP mapping
- Blepharophimosis with facial and genital anomalies and impaired intellectual development [OMIM Phenotype]
Related record
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH Supplementary 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]

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