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About:
Charcot-Marie-Tooth disease dominant intermediate D
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
Charcot-Marie-Tooth disease intermediate type
autosomal dominant disease
nodeID://b50942689
label
Charcot-Marie-Tooth disease dominant intermediate D
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0110200
database_cross_reference
ICD10CM:G60.0
OMIM:607791
ORDO:100046
has_exact_synonym
autosomal dominant intermediate Charcot-Marie-Tooth disease type D
(en)
CMTDID
(en)
DI-CMTD
(en)
Charcot-Marie-Tooth neuropathy dominant intermediate D
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942690
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