Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NEMALINE MYOPATHY 1

Synonyms

CAP MYOPATHY 1

ID

http://purl.bioontology.org/ontology/OMIM/609284

altLabel

CAP MYOPATHY 1

CAPM1

NEM1

cui

C3714994

C1836448

Gene Locus

1q22-q23

Gene Symbol

CFTD

TPM3

CAPM1

NEM1

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU022075

http://purl.bioontology.org/ontology/OMIM/MTHU000982

http://purl.bioontology.org/ontology/OMIM/MTHU000986

http://purl.bioontology.org/ontology/OMIM/MTHU000980

http://purl.bioontology.org/ontology/OMIM/MTHU001779

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

http://purl.bioontology.org/ontology/OMIM/MTHU000650

http://purl.bioontology.org/ontology/OMIM/MTHU025259

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000976

http://purl.bioontology.org/ontology/OMIM/MTHU028412

http://purl.bioontology.org/ontology/OMIM/MTHU000978

http://purl.bioontology.org/ontology/OMIM/MTHU029885

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

http://purl.bioontology.org/ontology/OMIM/MTHU000981

http://purl.bioontology.org/ontology/OMIM/MTHU042951

http://purl.bioontology.org/ontology/OMIM/MTHU000985

http://purl.bioontology.org/ontology/OMIM/MTHU000983

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

http://purl.bioontology.org/ontology/OMIM/MTHU000669

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU025256

http://purl.bioontology.org/ontology/OMIM/MTHU000349

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

http://purl.bioontology.org/ontology/OMIM/MTHU000979

http://purl.bioontology.org/ontology/OMIM/MTHU000977

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

609284

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

NEMALINE MYOPATHY 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538348 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538348 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0110926 Human Disease Ontology 123 LOOM