ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

SCAD DEFICIENCY

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

SCAD DEFICIENCY

ACADS DEFICIENCY

SCADH DEFICIENCY

ACADSD

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

C0342783

12q22-qter

ACADS

SCAD

http://purl.bioontology.org/ontology/OMIM/MTHU036362

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/MTHU003860

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

http://purl.bioontology.org/ontology/OMIM/MTHU051881

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/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/MTHU000185

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/MTHU002910

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU005726

Phenotype description, molecular basis known.

201470

3

pound

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

Onset birth to early childhood [MISCELLANEOUS]

Caused by mutation in the short chain acyl-CoA dehydrogenase gene (ACADS, 606885.0001) [MOLECULAR BASIS]

Highly variable phenotype, ranging from asymptomatic to severe [MISCELLANEOUS]

T047