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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620854
http://purl.bioontology.org/ontology/OMIM/620854
|
|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY |
| Synonyms |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY
HMNR11
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY
HMNR11
|
|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY
|
| Gene Symbol |
NSPL1
SPG12
RTN2
HMNR11
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Onset in the first decade [MISCELLANEOUS]
Caused by mutation in the reticulon 2 gene (RTN2, 603183.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620854
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5935630
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |