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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/616684
http://purl.bioontology.org/ontology/OMIM/616684
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|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K |
| Synonyms |
CMT4K
CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMT4K
CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K
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|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
|
| Gene Symbol |
SURF1
CMT4K
MC4DN1
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| notation | 616684
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| Scope Statement | Slowly progressive [MISCELLANEOUS]
Caused by mutation in the surfeit 1 gene (SURF1, 185620.0016) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Three patients from 2 unrelated families have been reported (last curated December 2015) [MISCELLANEOUS]
Onset in first decade [MISCELLANEOUS]
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| OMIM MimType Value | pound
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| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 9q34
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| tui | T047
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| cui | C4225246
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