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Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
MeSH Supplementary Concept Data 2025
Details
Concepts
MeSH Supplementary
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Unique ID
C565462
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565462
Registry Numbers
0
Heading Mapped to
*Blepharoptosis
*Coloboma
Iris
/
abnormalities
*Intellectual Disability
Frequency
0
Note
mutation in ACTB gene; also listed as Baraitser Winter Syndrome 1
Date of Entry
2012/11/05
Revision Date
2013/11/06
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Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Preferred
Concept UI
M0565762
Registry Numbers
0
Terms
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Preferred Term
Term UI
T831265
Date
10/11/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
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