iris coloboma with ptosis, hypertelorism, and mental retardation

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

MeSH note : mutation in ACTB gene; also listed as Baraitser Winter Syndrome 1;

Details

Origin ID

C565462;

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]
MeSH term(s) associated for indexing
- blepharoptosis [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- iris [MeSH Descriptor]
Record concept(s)
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH 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]

Keyword's position in hierarchy(ies) :

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