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Metadata
ID DOID:0111395
Name mucopolysaccharidosis type IIIA
Definition 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 SGSH on chromosome 17q25.3.
https://www.ncbi.nlm.nih.gov/pubmed/6796310, https://www.ncbi.nlm.nih.gov/pubmed/7493035
Xrefs

ICD10CM:E76.22

MESH:D009084

NCI:C84897

OMIM:252900

ORDO:79269

SNOMEDCT_US_2020_09_01:254070003

UMLS_CUI:C0086647

Synonyms

heparan sulfamidase deficiency [EXACT]

MPS3A [EXACT]

MPSIIIA [EXACT]

mucopolysaccharidosis III-A [EXACT]

mucopolysaccharidosis type 3A [EXACT]

mucopolysaccharidosis type IIIA (Sanfilippo A) [EXACT]

Sanfilippo syndrome type A [EXACT]

Parent Relationships

is_a mucopolysaccharidosis III

is_a autosomal recessive disease

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