Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
Synonyms	DI-CMTD
ID	http://purl.bioontology.org/ontology/OMIM/607791
altLabel	DI-CMTD CMTDID CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D
cui	C1843075
Gene Locus	1q22
Gene Symbol	CMTDID CHM MPZ CMT1B DSS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000902 http://purl.bioontology.org/ontology/OMIM/MTHU029695 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000326 http://purl.bioontology.org/ontology/OMIM/MTHU002354 http://purl.bioontology.org/ontology/OMIM/MTHU002781 http://purl.bioontology.org/ontology/OMIM/MTHU000325 http://purl.bioontology.org/ontology/OMIM/MTHU001014 http://purl.bioontology.org/ontology/OMIM/MTHU002353 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU002780 http://purl.bioontology.org/ontology/OMIM/MTHU000900
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607791
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564333	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564333	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0110200	Human Disease Ontology 123	LOOM