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short chain acyl-CoA dehydrogenase deficiency

Go to external page 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 ]

Synonyms: SCADD short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD) SCAD deficiency SCAD ACADS deficiency acyl-CoA dehydrogenase, short-chain deficiency short-chain acyl-CoA dehydrogenase deficiency (SCAD) short chain acyl-CoA dehydrogenase deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84539 (MONDO:equivalentTo)
  • Orphanet:26792 (OMIM:201470)
  • OMIM:201470 (Orphanet:26792/e)
  • DOID:0080154 (MONDO:equivalentTo)
  • MESH:C537596 (Orphanet:26792/e)
  • GARD:4822 (Orphanet:26792)
  • ICD10CM:E71.312 (MONDO:equivalentTo)
  • NORD:1709 (MONDO:NORD)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0080154

http://purl.bioontology.org/ontology/ICD10CM/E71.312

https://omim.org/entry/201470

http://www.orpha.net/ORDO/Orphanet_26792

http://purl.obolibrary.org/obo/NCIT_C84539

http://identifiers.org/mesh/C537596

has related synonym

acyl-CoA dehydrogenase, short-chain, deficiency OF

Scad deficiency

short-chain acyl-CoA dehydrogenase deficiency

lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency

Acads deficiency

short-chain acyl-coenzyme A dehydrogenase deficiency

Scadh deficiency

ACADSD

id

MONDO:0008722

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0008722

https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency

Term relations