Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

Synonyms

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III

ID

http://purl.bioontology.org/ontology/OMIM/145900

altLabel

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III

DEJERINE-SOTTAS NEUROPATHY

HMSN3

DEJERINE-SOTTAS SYNDROME

DSN

DSS

CMT3

CHARCOT-MARIE-TOOTH DISEASE, TYPE 3

cui

C0011195

Gene Locus

19q13.1-q13.2

Gene Symbol

PRX

CMT4F

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001409

http://purl.bioontology.org/ontology/OMIM/MTHU027142

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU027145

http://purl.bioontology.org/ontology/OMIM/MTHU002851

http://purl.bioontology.org/ontology/OMIM/MTHU010474

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU017740

http://purl.bioontology.org/ontology/OMIM/MTHU004693

http://purl.bioontology.org/ontology/OMIM/MTHU001560

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU000336

http://purl.bioontology.org/ontology/OMIM/MTHU027146

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000326

http://purl.bioontology.org/ontology/OMIM/MTHU036438

http://purl.bioontology.org/ontology/OMIM/MTHU002832

http://purl.bioontology.org/ontology/OMIM/MTHU001017

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU001096

http://purl.bioontology.org/ontology/OMIM/MTHU027141

http://purl.bioontology.org/ontology/OMIM/MTHU027144

http://purl.bioontology.org/ontology/OMIM/MTHU000909

http://purl.bioontology.org/ontology/OMIM/MTHU017745

http://purl.bioontology.org/ontology/OMIM/MTHU006146

http://purl.bioontology.org/ontology/OMIM/MTHU002880

http://purl.bioontology.org/ontology/OMIM/MTHU000325

http://purl.bioontology.org/ontology/OMIM/MTHU013936

http://purl.bioontology.org/ontology/OMIM/MTHU001004

http://purl.bioontology.org/ontology/OMIM/MTHU027143

http://purl.bioontology.org/ontology/OMIM/MTHU000335

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU000197

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

605260

notation

145900

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D015417 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G60.0 International Classification of Diseases, Version 10 - Clinical Modification CUI