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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616505
http://purl.bioontology.org/ontology/OMIM/616505
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|---|---|
| Preferred Name | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY |
| Synonyms |
HMSN6B
HMSN VIB
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B
CMT6B
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HMSN6B
HMSN VIB
CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B
CMT6B
|
|---|---|
| prefLabel | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
|
| Gene Symbol |
HMSN6B
PCH1E
SLC25A46
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| Scope Statement | Onset of peripheral neuropathy ranges from childhood to mid-adulthood [MISCELLANEOUS]
Onset of optic atrophy in first decade [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
Caused by mutation in the solute carrier family 25, member 46 gene (SLC25A46, 610826.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 5q22.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616505
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225302
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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 |