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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614499
http://purl.bioontology.org/ontology/OMIM/614499
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY |
| Synonyms |
MRT34
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRT34
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
|
| Gene Symbol |
RAIDD
CRADD
MRT34
|
| Scope Statement | Caused by mutation in the CASP2 and RIPK1 domain-containing adaptor with death domain gene (CRADD, 603454.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 12q21.33-q23.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614499
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3281044
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |