short chain acyl-CoA dehydrogenase deficiency
http://purl.obolibrary.org/obo/MONDO_0008722
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. [ Orphanet:26792 ]
Term info
- OMIM:201470 (Orphanet:26792/e)
- Orphanet:26792 (OMIM:201470)
- NCIT:C84539 (MONDO:equivalentTo)
- MESH:C537596 (Orphanet:26792/e)
- DOID:0080154 (MONDO:equivalentTo)
- ICD10CM:E71.312 (MONDO:equivalentTo)
- GARD:0004822 (MONDO:equivalentTo)
gard_rare, ordo_disease, clingen
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
http://purl.obolibrary.org/obo/DOID_0080154, http://purl.bioontology.org/ontology/ICD10CM/E71.312, https://omim.org/entry/201470, http://purl.obolibrary.org/obo/NCIT_C84539, http://purl.obolibrary.org/obo/Orphanet_26792, http://identifiers.org/mesh/C537596
short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD), SCADD, SCAD deficiency, SCAD, ACADS deficiency, acyl-CoA dehydrogenase, short-chain deficiency, short-chain acyl-CoA dehydrogenase deficiency (SCAD), short chain acyl-CoA dehydrogenase deficiency
acyl-CoA dehydrogenase, short-chain, deficiency OF, Scad deficiency, short-chain acyl-CoA dehydrogenase deficiency, Acads deficiency, lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency, short-chain acyl-coenzyme A dehydrogenase deficiency, Scadh deficiency, ACADSD
MONDO:0008722
https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency