Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

Synonyms

CFTD

ID

http://purl.bioontology.org/ontology/OMIM/255310

altLabel

CFTD

FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL

CFTDM

cui

C0546264

Gene Locus

1p36-p35

Gene Symbol

CFTD

SELN

RSMD1

SEPN1

SELENON

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037782

http://purl.bioontology.org/ontology/OMIM/MTHU005871

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU010859

http://purl.bioontology.org/ontology/OMIM/MTHU002170

http://purl.bioontology.org/ontology/OMIM/MTHU010857

http://purl.bioontology.org/ontology/OMIM/MTHU037032

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU010856

http://purl.bioontology.org/ontology/OMIM/MTHU010860

http://purl.bioontology.org/ontology/OMIM/MTHU010866

http://purl.bioontology.org/ontology/OMIM/MTHU000958

http://purl.bioontology.org/ontology/OMIM/MTHU010869

http://purl.bioontology.org/ontology/OMIM/MTHU028384

http://purl.bioontology.org/ontology/OMIM/MTHU028382

http://purl.bioontology.org/ontology/OMIM/MTHU003611

http://purl.bioontology.org/ontology/OMIM/MTHU010870

http://purl.bioontology.org/ontology/OMIM/MTHU042089

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

http://purl.bioontology.org/ontology/OMIM/MTHU010862

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

http://purl.bioontology.org/ontology/OMIM/MTHU001531

http://purl.bioontology.org/ontology/OMIM/MTHU008155

http://purl.bioontology.org/ontology/OMIM/MTHU001545

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000422

http://purl.bioontology.org/ontology/OMIM/MTHU000710

http://purl.bioontology.org/ontology/OMIM/MTHU010868

http://purl.bioontology.org/ontology/OMIM/MTHU009370

http://purl.bioontology.org/ontology/OMIM/MTHU010858

http://purl.bioontology.org/ontology/OMIM/MTHU028385

http://purl.bioontology.org/ontology/OMIM/MTHU042088

http://purl.bioontology.org/ontology/OMIM/MTHU010861

http://purl.bioontology.org/ontology/OMIM/MTHU010863

http://purl.bioontology.org/ontology/OMIM/MTHU028383

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

255310

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION

tui

T019

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http://purl.bioontology.org/ontology/ICD10CM/G71.2 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D020914 Medical Subject Headings CUI