FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis type IIID ID (Ontology) DOID:0111402 (Human Disease)
Definition A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.
Also Known As "GNS deficiency" ; "MPS IIID" ; "MPS3D" (for all, see Synonyms field below)
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DO.org
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 Genes
 mucopolysaccharidosis type IIID       2
 for disease ribbon | mucopolysaccharidosis type IIID       2
 model of | mucopolysaccharidosis type IIID       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
mucopolysaccharidosis            |
 |__mucopolysaccharidosis III____|
                                 mucopolysaccharidosis type IIID  2 rec.
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Is a autosomal recessive disease
mucopolysaccharidosis III
Part of
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Synonyms
  • "GNS deficiency" EXACT
    "MPS IIID" EXACT OMO:0003012
    "MPS3D" EXACT OMO:0003012
    "Mucopolysaccharidosis type 3D" EXACT
    "N-acetylglucosamine-6-sulfatase deficiency" EXACT
    "Sanfilippo syndrome D" EXACT
    "Sanfilippo syndrome type D" EXACT
Secondary IDs
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GARD:7074
ICD10CM:E76.22
MESH:D009084
MIM:252940
NCI:C84900
ORDO:79272
SNOMEDCT_US_2023_03_01:15892005
UMLS_CUI:C0086650