Preferred Name |
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
|
Synonyms |
CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT |
|
ID |
http://purl.bioontology.org/ontology/OMIM/118300 |
|
altLabel |
CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT CMT1E CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E |
|
cui |
C3495591 |
|
Gene Locus |
17p11.2 |
|
Gene Symbol |
DSS CMT1A CIDP CMT1E PMP22 |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU004251 http://purl.bioontology.org/ontology/OMIM/MTHU001017 http://purl.bioontology.org/ontology/OMIM/MTHU018992 http://purl.bioontology.org/ontology/OMIM/MTHU036554 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU002724 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000902 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
118300 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS |
|
Scope Statement |
Allelic disorders with overlapping phenotypes include CMT1A (118220), hereditary neuropathy with liability to pressure palsies (HNPP, 162500), and Dejerine-Sottas syndrome (DSS, 145900) [MISCELLANEOUS] Usually begins in feet and legs (peroneal distribution) [MISCELLANEOUS] Upper limb involvement usually occurs later [MISCELLANEOUS] Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0010) [MOLECULAR BASIS] Childhood onset [MISCELLANEOUS] |
|
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C566136 | MESH | CUI | |
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538078 | RH-MESH | LOOM | |
http://purl.bioontology.org/ontology/MESH/C538078 | MESH | LOOM | |
http://www.owl-ontologies.com/unnamed.owl#RID15237 | DERMLEX | LOOM |