short stature due to primary acid-labile subunit deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0014420


Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. [ Orphanet:140941 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C3900122 (NCBI:mim2gene_medline)
  • OMIM:615961 (Orphanet:140941)
  • Orphanet:140941 (OMIM:615961)
  • ICD10:E34.3 (Orphanet:140941)
  • SCTID:721074002 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3900122

http://www.orpha.net/ORDO/Orphanet_140941

http://identifiers.org/omim/615961

http://identifiers.org/snomedct/721074002

has related synonym

ACLSD

acid-labile SUBUNIT deficiency

id

MONDO:0014420