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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/616078
http://purl.bioontology.org/ontology/OMIM/616078
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Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 |
Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MRD29
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MRD29
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prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29
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Gene Symbol |
KIAA0437
SETBP1
SEB
MRD29
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notation | 616078
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Scope Statement | Variable dysmorphic features [MISCELLANEOUS]
Caused by mutation in the SET-binding protein 1 gene (SETBP1, 611060.0006) [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 | 18q12.31
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tui | T048
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cui | C4015141
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