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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/156200
http://purl.bioontology.org/ontology/OMIM/156200
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Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 |
Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
MRD1
CHROMOSOME 2q23.1 DUPLICATION SYNDROME
CHROMOSOME 2q23.1 DELETION SYNDROME
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
MRD1
CHROMOSOME 2q23.1 DUPLICATION SYNDROME
CHROMOSOME 2q23.1 DELETION SYNDROME
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prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1
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Gene Symbol |
KIAA1461
MBD5
MRD1
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notation | 156200
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Scope Statement | Those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features [MISCELLANEOUS]
Caused by mutation in the methyl-CpG-binding domain protein 5 gene (MBD5, 611472.0001) [MOLECULAR BASIS]
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OMIM MimType Value | pound
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Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
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type | |
Has manifestation |
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MIMTYPEMEANING | Phenotype description, molecular basis known.
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Gene Locus | 2q23.1
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tui |
T047
T048
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cui |
C5677023
C1969562
C3277090
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