OBO ID: DOID:0111391
Term Name: mucopolysaccharidosis IVA Search Ontology:
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
  • NCI:C84901
  • OMIM:253000
  • ORDO:309297
  • SNOMEDCT_US_2023_03_01:7259005
  • UMLS_CUI:C0086651
Ontology: Human Disease   ( DOID:0111391 )
Relationships
is a type of:
OTHER mucopolysaccharidosis IVA PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GALNS Mucopolysaccharidosis IVA 253000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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