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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620988
http://purl.bioontology.org/ontology/OMIM/620988
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75 |
| Synonyms |
MRD75
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MRD75
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75
|
| Gene Symbol |
NDHII
DDX9
MRD75
DHX9
|
| Scope Statement | Highly variable severity and manifestations [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the DExH-box helicase 9 gene (DHX9, 603115.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | 1q25
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620988
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975482
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |