Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

PERIPHERAL MYELIN PROTEIN 22

Synonyms

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

ID

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

altLabel

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

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

NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

ROUSSY-LEVY SYNDROME

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE

PMP22

POLYNEUROPATHY, INFLAMMATORY DEMYELINATING

GAS3

GROWTH ARREST-SPECIFIC 3

cui

C3495591

C2677379

C1832783

C0393814

C4016717

C4016716

C1418677

C0205713

C4016264

C0270911

Gene Locus

17p11.2

Gene Symbol

DSS

CMT1A

CIDP

CMT1E

PMP22

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

601097

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

PERIPHERAL MYELIN PROTEIN 22

tui

T047

T033

T028

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C566136 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10069382 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP19757-1 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10063450 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DA-44022 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10069820 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10069382 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C536965 MESH CUI
http://purl.bioontology.org/ontology/RCD/X00AM RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/230558006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069820 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10069382 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069820 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230558006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10063449 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D002607 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-22013 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D002607 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10063449 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/45853006 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/2042-7637 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10063449 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/G60.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/45853006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10063450 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10063450 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D002607 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D002607 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/40632002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40632002 SNOMEDCT CUI
http://purl.obolibrary.org/obo/PR_000012910 PR LOOM
http://purl.obolibrary.org/obo/PR_000012910 NIFSTD LOOM
http://purl.obolibrary.org/obo/NCIT_C75902 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_117908 ORDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15114 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75902 NCIT LOOM