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 the SGSH gene on chromosome 17q25.3. https://www.ncbi.nlm.nih.gov/pubmed/6796310, https://www.ncbi.nlm.nih.gov/pubmed/7493035 |
Xrefs |
SNOMEDCT_US_2023_03_01:254070003 |
Subsets |
DO_rare_slim NCIthesaurus |
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 |