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short stature due to primary acid-labile subunit deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.
Mondo Term and Equivalent IDs
MONDO:0014420: short stature due to primary acid-labile subunit deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615961
Orphanet:140941
SCTID:721074002
UMLS:C3900122
MONDO:0014420
High level summary of knowledge for a disease, including descriptions and datasource references.