Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619216
http://purl.bioontology.org/ontology/OMIM/619216
|
|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7 |
| Synonyms |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7
HMNR7
NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
HMNMYO
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7
HMNR7
NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
HMNMYO
|
|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7
|
| Gene Symbol |
HMNR7
WARP
VWA1
|
| Scope Statement | Caused by mutation in the von Willebrand factor A domain-containing protein 1 (VWA1, 611901.0001) [MOLECULAR BASIS]
Slowly progressive [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Variable age at onset (range first to fifth decade) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 1p36.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619216
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543119
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |