Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

Synonyms

HMSN2C

ID

http://purl.bioontology.org/ontology/OMIM/606071

altLabel

HMSN2C

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C

HMSN IIC

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C

CMT2C

cui

C1853710

Gene Locus

12q24.1

Gene Symbol

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU033516

http://purl.bioontology.org/ontology/OMIM/MTHU004189

http://purl.bioontology.org/ontology/OMIM/MTHU004187

http://purl.bioontology.org/ontology/OMIM/MTHU004183

http://purl.bioontology.org/ontology/OMIM/MTHU004193

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU004191

http://purl.bioontology.org/ontology/OMIM/MTHU004185

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

http://purl.bioontology.org/ontology/OMIM/MTHU038374

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU033511

http://purl.bioontology.org/ontology/OMIM/MTHU003955

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU029501

http://purl.bioontology.org/ontology/OMIM/MTHU002849

http://purl.bioontology.org/ontology/OMIM/MTHU000479

http://purl.bioontology.org/ontology/OMIM/MTHU033515

http://purl.bioontology.org/ontology/OMIM/MTHU033513

http://purl.bioontology.org/ontology/OMIM/MTHU002854

http://purl.bioontology.org/ontology/OMIM/MTHU004186

http://purl.bioontology.org/ontology/OMIM/MTHU001112

http://purl.bioontology.org/ontology/OMIM/MTHU004184

http://purl.bioontology.org/ontology/OMIM/MTHU004182

http://purl.bioontology.org/ontology/OMIM/MTHU004700

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

http://purl.bioontology.org/ontology/OMIM/MTHU004194

http://purl.bioontology.org/ontology/OMIM/MTHU031668

http://purl.bioontology.org/ontology/OMIM/MTHU004192

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU033514

http://purl.bioontology.org/ontology/OMIM/MTHU037278

http://purl.bioontology.org/ontology/OMIM/MTHU001872

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU033512

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

606071

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565261 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565261 Medical Subject Headings LOOM