Hearing Impairment Ontology

Last uploaded: October 31, 2019
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Preferred Name

Charcot-Marie-Tooth Disease
Synonyms
Definitions

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves.
ID

http://purl.obolibrary.org/obo/HIO_0000038
description

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves.
created_by

Jade Hotchkiss
creation_date

2019-05-31T07:28:23.969977Z
database cross reference

NCIT:C75467
definition source

http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C75467
existence in other ontologies

Sufficient
hasDeprecatedSynonym

Marie Ataxia

Friedreich's Ataxia
hasExactSynonym

Hereditary Motor and Sensory Neuropathy

Hereditary Sensorimotor Neuropathy

CMT
label

Charcot-Marie-Tooth Disease
prefixIRI

HIO:0000038
prefLabel

Charcot-Marie-Tooth Disease
subClassOf

http://purl.obolibrary.org/obo/HIO_0000293
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015626 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200016 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_10595 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.829.800.300.200 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D002607 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_637 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C75467 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.300.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.300.200 RH-MESH LOOM
http://purl.jp/bio/4/id/200906052625585763 IOBC LOOM
http://localhost/plosthes.2017-1#11574 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0003933 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.375.200 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/nlx_dys_100316 NIFSTD LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Charcot-Marie-Tooth_Disease APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Charcot-Marie-Tooth_Disease APAONTO LOOM
http://radlex.org/RID/RID34634 RADLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/F361000 RCTV2 LOOM
http://purl.obolibrary.org/obo/DOID_10595 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10595 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10595 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10595 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10595 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10595 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10595 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007959 MEDLINEPLUS LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015626 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.495.200 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002607 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008414 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75467 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038419 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10595 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0007959 OCHV LOOM
http://www.gamuts.net/entity#Charcot_Marie_Tooth_disease GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2722 OCHV LOOM