Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

Synonyms

SCAD DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/201470

altLabel

SCAD DEFICIENCY

ACADS DEFICIENCY

SCADH DEFICIENCY

ACADSD

LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

cui

C0342783

Gene Locus

12q22-qter

Gene Symbol

ACADS

SCAD

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU017329

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU005450

http://purl.bioontology.org/ontology/OMIM/MTHU023728

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU023738

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

http://purl.bioontology.org/ontology/OMIM/MTHU023732

http://purl.bioontology.org/ontology/OMIM/MTHU023740

http://purl.bioontology.org/ontology/OMIM/MTHU014227

http://purl.bioontology.org/ontology/OMIM/MTHU023730

http://purl.bioontology.org/ontology/OMIM/MTHU023736

http://purl.bioontology.org/ontology/OMIM/MTHU023734

http://purl.bioontology.org/ontology/OMIM/MTHU003653

http://purl.bioontology.org/ontology/OMIM/MTHU005451

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU027619

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU023729

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU023735

http://purl.bioontology.org/ontology/OMIM/MTHU023733

http://purl.bioontology.org/ontology/OMIM/MTHU023739

http://purl.bioontology.org/ontology/OMIM/MTHU023731

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

201470

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LA12524-7 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU047545 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C537596 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/E71.312 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/LNC/LP174562-1 Logical Observation Identifier Names and Codes CUI