Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	EARLY GROWTH RESPONSE 2
Synonyms	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
ID	http://purl.bioontology.org/ontology/OMIM/129010
altLabel	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D EGR2 DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT KROX20 NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
cui	C4016028 C1414315 C3551756 C1843247 C4016027
Gene Locus	10q21.1-q22.1
Gene Symbol	EGR2 KROX20
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/129010.0001 http://purl.bioontology.org/ontology/OMIM/129010.0005 http://purl.bioontology.org/ontology/OMIM/129010.0003 http://purl.bioontology.org/ontology/OMIM/129010.0002 http://purl.bioontology.org/ontology/OMIM/129010.0004
MIMTYPEMEANING	Gene with known sequence
notation	129010
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	EARLY GROWTH RESPONSE 2
tui	T028 T033 T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/LNC/LP31869-8	Logical Observation Identifier Names and Codes	CUI
	http://purl.bioontology.org/ontology/MESH/C537985	Medical Subject Headings	CUI