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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620221
http://purl.bioontology.org/ontology/OMIM/620221
|
|---|---|
| Preferred Name | SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA |
| Synonyms |
SPG79A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SPG79A
|
|---|---|
| prefLabel | SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA
|
| Gene Symbol |
PARK5
UCHL1
SPG79
NDGOA
SPG79A
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1, 191342.0006) [MOLECULAR BASIS]
Median age at onset 49 years (range childhood to age 70) [MISCELLANEOUS]
Variable features may be present [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620221
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774300
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |