Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NEMALINE MYOPATHY 3

Synonyms

NEM3

ID

http://purl.bioontology.org/ontology/OMIM/161800

altLabel

NEM3

MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS

NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS

MYOPATHY, ACTIN, CONGENITAL, WITH CORES

cui

C2750537

C3711389

C2750536

C1834339

Gene Locus

1q42.1

Gene Symbol

NEM3

ACTA1

CFTD1

ASMA

SHPM

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU008235

http://purl.bioontology.org/ontology/OMIM/MTHU010754

http://purl.bioontology.org/ontology/OMIM/MTHU036443

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

http://purl.bioontology.org/ontology/OMIM/MTHU001546

http://purl.bioontology.org/ontology/OMIM/MTHU010753

http://purl.bioontology.org/ontology/OMIM/MTHU003664

http://purl.bioontology.org/ontology/OMIM/MTHU041379

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

http://purl.bioontology.org/ontology/OMIM/MTHU026493

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU016564

http://purl.bioontology.org/ontology/OMIM/MTHU041383

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

http://purl.bioontology.org/ontology/OMIM/MTHU031268

http://purl.bioontology.org/ontology/OMIM/MTHU041377

http://purl.bioontology.org/ontology/OMIM/MTHU041381

http://purl.bioontology.org/ontology/OMIM/MTHU027275

http://purl.bioontology.org/ontology/OMIM/MTHU010743

http://purl.bioontology.org/ontology/OMIM/MTHU010749

http://purl.bioontology.org/ontology/OMIM/MTHU026499

http://purl.bioontology.org/ontology/OMIM/MTHU010737

http://purl.bioontology.org/ontology/OMIM/MTHU001140

http://purl.bioontology.org/ontology/OMIM/MTHU010735

http://purl.bioontology.org/ontology/OMIM/MTHU026491

http://purl.bioontology.org/ontology/OMIM/MTHU026497

http://purl.bioontology.org/ontology/OMIM/MTHU010733

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

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU004523

http://purl.bioontology.org/ontology/OMIM/MTHU000424

http://purl.bioontology.org/ontology/OMIM/MTHU010747

http://purl.bioontology.org/ontology/OMIM/MTHU000901

http://purl.bioontology.org/ontology/OMIM/MTHU010742

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU010752

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU010750

http://purl.bioontology.org/ontology/OMIM/MTHU010755

http://purl.bioontology.org/ontology/OMIM/MTHU010740

http://purl.bioontology.org/ontology/OMIM/MTHU000572

http://purl.bioontology.org/ontology/OMIM/MTHU000355

http://purl.bioontology.org/ontology/OMIM/MTHU001563

http://purl.bioontology.org/ontology/OMIM/MTHU041378

http://purl.bioontology.org/ontology/OMIM/MTHU004486

http://purl.bioontology.org/ontology/OMIM/MTHU041384

http://purl.bioontology.org/ontology/OMIM/MTHU041382

http://purl.bioontology.org/ontology/OMIM/MTHU026498

http://purl.bioontology.org/ontology/OMIM/MTHU026496

http://purl.bioontology.org/ontology/OMIM/MTHU010732

http://purl.bioontology.org/ontology/OMIM/MTHU010738

http://purl.bioontology.org/ontology/OMIM/MTHU026494

http://purl.bioontology.org/ontology/OMIM/MTHU041380

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU022402

http://purl.bioontology.org/ontology/OMIM/MTHU010748

http://purl.bioontology.org/ontology/OMIM/MTHU010731

http://purl.bioontology.org/ontology/OMIM/MTHU010744

http://purl.bioontology.org/ontology/OMIM/MTHU010736

http://purl.bioontology.org/ontology/OMIM/MTHU026492

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

160200

notation

161800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NEMALINE MYOPATHY 3

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C579880 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0110927 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C563529 Medical Subject Headings CUI