| 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/7493035, https://www.ncbi.nlm.nih.gov/pubmed/6796310 |
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |