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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/182960
http://purl.bioontology.org/ontology/OMIM/182960
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|---|---|
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 1 |
| Synonyms |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE I
HMN1
HMN I
HMND1
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I
NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE I
DHMN1
SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, HARDING TYPE I
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE I
HMN1
HMN I
HMND1
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I
NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE I
DHMN1
SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, HARDING TYPE I
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|---|---|
| prefLabel | NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 1
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| Gene Symbol |
HMND1
DHMN1
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| Scope Statement | Onset usually in first or second decade (mean 10 years) [MISCELLANEOUS]
Caused by a heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2 [MOLECULAR BASIS]
Adult onset rarely reported [MISCELLANEOUS]
Upper limb involvement may occur later [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 7q34-q36
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 182960
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1866784
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| Moved from | 271120
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |