Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PERIPHERAL MYELIN PROTEIN 22

Synonyms

POLYNEUROPATHY, INFLAMMATORY DEMYELINATING

ID

http://purl.bioontology.org/ontology/OMIM/601097

altLabel

POLYNEUROPATHY, INFLAMMATORY DEMYELINATING

GAS3

GROWTH ARREST-SPECIFIC 3

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS

PMP22

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT

ROUSSY-LEVY SYNDROME

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE

cui

C4016716

C3495591

C0270911

C1832783

C0205713

C1418677

C2677379

C4016717

C4016264

C0393814

Gene Locus

17p11.2

Gene Symbol

CMT1E

CIDP

PMP22

CMT1A

DSS

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601097.0005

http://purl.bioontology.org/ontology/OMIM/601097.0006

http://purl.bioontology.org/ontology/OMIM/601097.0018

http://purl.bioontology.org/ontology/OMIM/601097.0019

http://purl.bioontology.org/ontology/OMIM/601097.0017

http://purl.bioontology.org/ontology/OMIM/601097.0007

http://purl.bioontology.org/ontology/OMIM/601097.0010

http://purl.bioontology.org/ontology/OMIM/601097.0021

http://purl.bioontology.org/ontology/OMIM/601097.0003

http://purl.bioontology.org/ontology/OMIM/601097.0001

http://purl.bioontology.org/ontology/OMIM/601097.0002

http://purl.bioontology.org/ontology/OMIM/601097.0014

http://purl.bioontology.org/ontology/OMIM/601097.0015

http://purl.bioontology.org/ontology/OMIM/601097.0008

http://purl.bioontology.org/ontology/OMIM/601097.0022

http://purl.bioontology.org/ontology/OMIM/601097.0009

http://purl.bioontology.org/ontology/OMIM/601097.0016

http://purl.bioontology.org/ontology/OMIM/601097.0004

http://purl.bioontology.org/ontology/OMIM/601097.0020

http://purl.bioontology.org/ontology/OMIM/601097.0012

http://purl.bioontology.org/ontology/OMIM/601097.0011

http://purl.bioontology.org/ontology/OMIM/601097.0013

MIMTYPEMEANING

Gene with known sequence

notation

601097

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PERIPHERAL MYELIN PROTEIN 22

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536965 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP19757-1 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D002607 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566136 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/PR_000012910 Protein Ontology LOOM
http://purl.bioontology.org/ontology/ICD10CM/G60.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75902 National Cancer Institute Thesaurus LOOM