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| Term | mucopolysaccharidosis type IIIC | ID (Ontology) | DOID:0111393 (Human Disease) |
| Definition | A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. | ||
| Also Known As | "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency" ; "Heparan-alpha-glucosaminide N-acetyltransferase deficiency" ; "HGSNAT deficiency" (for all, see Synonyms field below) | ||
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| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ mucopolysaccharidosis | |__mucopolysaccharidosis III____| mucopolysaccharidosis type IIIC 5 rec. |
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| Is a |
autosomal recessive disease mucopolysaccharidosis III |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:7073 ICD10CM:E76.22 MESH:D009084 MIM:252930 NCI:C84899 ORDO:79271 SNOMEDCT_US_2023_03_01:75238000 UMLS_CUI:C0086649 |
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