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loading...| Preferred Name |
mucopolysaccharidosis type IIID |
| Synonyms |
MPS IIID |
| Definitions |
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111402 |
| database_cross_reference |
NCI:C84900 UMLS_CUI:C0086650 GARD:7074 ICD10CM:E76.22 OMIM:252940 SNOMEDCT_US_2022_09_01:15892005 ORDO:79272 MESH:D009084 |
| definition |
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. |
| has exact synonym |
MPS IIID N-acetylglucosamine-6-sulfatase deficiency Sanfilippo syndrome type D Sanfilippo syndrome D Mucopolysaccharidosis type 3D GNS deficiency MPS3D |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111402 |
| in_subset | |
| label |
mucopolysaccharidosis type IIID |
| notation |
DOID:0111402 |
| prefLabel |
mucopolysaccharidosis type IIID |
| subClassOf |