FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis IV ID (Ontology) DOID:12804 (Human Disease)
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Also Known As "deficiency of chondroitinsulphatase" ; "deficiency of N-acetylgalactosamine-6-sulphatase" ; "galactosamine-6-sulfatase deficiency" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  lysosomal storage disease
   |__mucopolysaccharidosis
       |__mucopolysaccharidosis IV  6 rec.
           |__mucopolysaccharidosis IVA 4 rec.
           |__mucopolysaccharidosis type IVB 2 rec.
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Synonyms
  • "chondroosteodystrophy" NARROW
    "deficiency of chondroitinsulphatase" EXACT
    "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT
    "galactosamine-6-sulfatase deficiency" EXACT
    "Mucopolysaccharidosis, MPS-IV" EXACT
    "Osteochondrodystrophy" NARROW
Secondary IDs
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ICD10CM:E76.219
MESH:D009085
NCI:C61263
SNOMEDCT_US_2023_03_01:378007
UMLS_CUI:C0026707