Preferred Name |
Charcot-Marie-Tooth disease dominant intermediate D |
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Synonyms |
autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
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Definitions |
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
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ID |
http://purl.obolibrary.org/obo/DOID_0110200 |
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database_cross_reference |
ICD10CM:G60.0 ORDO:100046 MESH:C564333 OMIM:607791 |
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has exact synonym |
autosomal dominant intermediate Charcot-Marie-Tooth disease type D CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0110200 |
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in_subset | ||
label |
Charcot-Marie-Tooth disease dominant intermediate D |
|
notation |
DOID:0110200 |
|
prefLabel |
Charcot-Marie-Tooth disease dominant intermediate D |
|
textual definition |
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
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subClassOf |