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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619911
http://purl.bioontology.org/ontology/OMIM/619911
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM |
| Synonyms |
IDLDP
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IDLDP
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
|
| Gene Symbol |
TINUR
NURR1
IDLDP
NOT
NR4A2
|
| Scope Statement | Movement disorders including dystonia and parkinsonism usually show later onset in young adulthood [MISCELLANEOUS]
Favorable response to L-dopa treatment [MISCELLANEOUS]
Caused by mutation in the nuclear receptor subfamily 4, group A, member 2 gene (NR4A2, 601828.0003) [MOLECULAR BASIS]
Highly variable phenotype and severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q22-q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619911
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5677001
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |