loading...| Preferred Name |
mucopolysaccharidosis type IIIC |
| Synonyms |
MPS3C |
| Definitions |
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111393 |
| database_cross_reference |
NCI:C84899 ORDO:79271 ICD10CM:E76.22 SNOMEDCT_US_2022_09_01:75238000 UMLS_CUI:C0086649 GARD:7073 OMIM:252930 MESH:D009084 |
| definition |
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. |
| has exact synonym |
MPS3C Mucopolysaccharidosis type 3C MPSIIIC mucopolysaccharidosis type IIIC (Sanfilippo C) Sanfilippo syndrome type C Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency HGSNAT deficiency |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111393 |
| in_subset | |
| label |
mucopolysaccharidosis type IIIC |
| notation |
DOID:0111393 |
| prefLabel |
mucopolysaccharidosis type IIIC |
| subClassOf |