Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D
Synonyms	HMSN ID
ID	http://purl.bioontology.org/ontology/OMIM/607678
altLabel	HMSN ID HMSN1D CMT1D HEREDITARY MOTOR AND SENSORY NEUROPATHY 1D CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D
cui	C1843247
Gene Locus	10q21.1-q22.1
Gene Symbol	EGR2 KROX20
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU026887 http://purl.bioontology.org/ontology/OMIM/MTHU029676 http://purl.bioontology.org/ontology/OMIM/MTHU001831 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU000759 http://purl.bioontology.org/ontology/OMIM/MTHU000903 http://purl.bioontology.org/ontology/OMIM/MTHU000909 http://purl.bioontology.org/ontology/OMIM/MTHU029677 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU001004 http://purl.bioontology.org/ontology/OMIM/MTHU000900
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607678
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537985	Medical Subject Headings	CUI