Search Ontology:
Human Disease

mucopolysaccharidosis IVA

Term ID
DOID:0111391
Synonyms
  • GALNS deficiency
  • MPS IVA
  • MPS4A
Definition
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (2)
References
  • GARD:3785
  • ICD10CM:E76.210
  • MESH:D009085
  • MIM:253000
  • NCI:C84901
  • ORDO:309297
  • SNOMEDCT_US_2023_03_01:7259005
  • UMLS_CUI:C0086651
Ontology
Human Disease   ( DOID:0111391 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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