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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608340
http://purl.bioontology.org/ontology/OMIM/608340
|
|---|---|
| Preferred Name | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A |
| Synonyms |
CMTRIA
RI-CMTA
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CMTRIA
RI-CMTA
CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A
|
|---|---|
| prefLabel | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
|
| Gene Symbol |
GDAP1
CMT2K
CMT4A
CMTRIA
|
| Scope Statement | Allelic to several forms of autosomal recessive CMT (see 214400) [MISCELLANEOUS]
Clinical and pathologic features of both demyelinating and axonal CMT [MISCELLANEOUS]
Onset in early childhood (2-4 years) [MISCELLANEOUS]
Severe course [MISCELLANEOUS]
Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, 606598.0006) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q21.11
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608340
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1842197
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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