mucopolysaccharidosis type IIID

Term ID

DOID:0111402

Synonyms

• GNS deficiency
• MPS IIID
• MPS3D
• Mucopolysaccharidosis type 3D
• N-acetylglucosamine-6-sulfatase deficiency
• Sanfilippo syndrome D
• Sanfilippo syndrome type D

Definition

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. https://www.ncbi.nlm.nih.gov/pubmed/12573255

References

• GARD:7074
• ICD10CM:E76.22
• MESH:D009084
• MIM:252940
• NCI:C84900
• ORDO:79272
• SNOMEDCT_US_2023_03_01:15892005
• UMLS_CUI:C0086650

Ontology

Human Disease   ( DOID:0111402 )