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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613724
http://purl.bioontology.org/ontology/OMIM/613724
|
|---|---|
| Preferred Name | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY |
| Synonyms |
STEROL CARRIER PROTEIN 2 DEFICIENCY
LKDMN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
STEROL CARRIER PROTEIN 2 DEFICIENCY
LKDMN
|
|---|---|
| prefLabel | LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
|
| Gene Symbol | SCP2
|
| Scope Statement | Caused by mutation in the sterol carrier protein-2 gene (SCP2, 184755.0001) [MOLECULAR BASIS]
Stressful situations can exacerbate symptoms [MISCELLANEOUS]
One patient has been described (last curated May 2006) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613724
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150990
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |