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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/620237
http://purl.bioontology.org/ontology/OMIM/620237
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 |
| Synonyms |
MRT78
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MRT78
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
|
| Gene Symbol |
BRWD2
WDR11
DR11
HH14
KIAA1351
|
| notation | 620237
|
| Scope Statement | Caused by mutation in the WD repeat-containing protein 11 gene (WDR11, 606417.0004) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 10q26
|
| tui | T048
|
| cui | C5830269
|
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