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About:
Charcot-Marie-Tooth disease type 4A
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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 type 4
autosomal recessive disease
nodeID://b50942656
label
Charcot-Marie-Tooth disease type 4A
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0110185
database_cross_reference
ICD10CM:G60.0
OMIM:214400
ORDO:99948
has_exact_synonym
CMT4A
(en)
Charcot-Marie-Tooth neuropathy type 4A
(en)
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942657
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