loading...| Preferred Name |
mucopolysaccharidosis type IIIA |
| Synonyms |
mucopolysaccharidosis type 3A |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111395 |
| database_cross_reference |
UMLS_CUI:C0086647 ICD10CM:E76.22 NCI:C84897 ORDO:79269 SNOMEDCT_US_2022_09_01:254070003 MESH:D009084 OMIM:252900 |
| 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. |
| has exact synonym |
mucopolysaccharidosis type 3A MPS3A mucopolysaccharidosis III-A MPSIIIA heparan sulfamidase deficiency mucopolysaccharidosis type IIIA (Sanfilippo A) Sanfilippo syndrome type A |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111395 |
| in_subset | |
| label |
mucopolysaccharidosis type IIIA |
| notation |
DOID:0111395 |
| prefLabel |
mucopolysaccharidosis type IIIA |
| subClassOf |