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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/168605
http://purl.bioontology.org/ontology/OMIM/168605
|
|---|---|
| Preferred Name | PERRY SYNDROME |
| Synonyms |
PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
|
|---|---|
| prefLabel | PERRY SYNDROME
|
| Gene Symbol |
HMND14
DCTN1
|
| Scope Statement | Onset in fourth to fifth decade [MISCELLANEOUS]
Rapid progression [MISCELLANEOUS]
Caused by mutation in the dynactin 1 gene (DCTN1, 601143.0006) [MOLECULAR BASIS]
Variable presentation and manifestations [MISCELLANEOUS]
Variable response to levodopa treatment [MISCELLANEOUS]
Central hypoventilation occurs late in the disease and is often fatal [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 168605
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1868594
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |