Charcot-Marie-Tooth disease type 1A
(Q9190339)
Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)
Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)
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Current Data About
Charcot-Marie-Tooth disease type 1A
| (P31) |
(Q200779)
(Q112193867) |
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| (P279) |
(Q3281253)
(Q18553439)
(Q55786659) |
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| (P1748) |
C75468
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| (P1995) |
(Q83042)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0110148
http://identifiers.org/doid/DOID:0110148
http://www.orpha.net/ORDO/Orphanet_101081 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12 |
| description | Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22) |
External Links
| (P492) |
118220
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| (P699) |
DOID:0110148
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| (P1550) |
101081
|
| (P4229) |
G60.0
|
| (P4317) |
1245
|
| (P5270) |
MONDO_0007309
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| (P7464) |
17q12-duplication
|
| (P11430) |
DI-00268
|