iris coloboma with ptosis, hypertelorism, and mental retardation

Preferred Label : iris coloboma with ptosis, hypertelorism, and mental retardation;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565762;

UMLS CUI

C1855722;

Currated CISMeF NLP mapping
- Baraitser Winter syndrome [Disease (Nov.)]
- Baraitser Winter syndrome 1 [Disease (Nov.)]
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
- Baraitser-Winter syndrome [DO Concept]
- Baraitser-winter syndrome 1 [OMIM Phenotype]
- Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) [SNOMED CT concept]
Related record
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baraitser Winter syndrome 1 [Disease (Nov.)]
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
- Baraitser-winter syndrome 1 [OMIM Phenotype]