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DO Term : mucopolysaccharidosis type IIIA [DOID:0111395] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
  • synonyms:
  • mucopolysaccharidosis III-A,
  • Sanfilippo syndrome type A,
  • heparan sulfamidase deficiency,
  • 252900,
  • MESH:D009084,
  • SNOMEDCT_US_2023_03_01:254070003,
  • NCI:C84897,
  • UMLS_CUI:C0086647,
  • mucopolysaccharidosis type IIIA (Sanfilippo A),
  • ORDO:79269,
  • MPS3A,
  • ICD10CM:E76.22,
  • OMIM:252900,
  • mucopolysaccharidosis type 3A,
  • MPSIIIA
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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