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| Term | mucopolysaccharidosis type IIIA | ID (Ontology) | DOID:0111395 (Human Disease) |
| 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. | ||
| Also Known As | "heparan sulfamidase deficiency" ; "MPS3A" ; "MPSIIIA" (for all, see Synonyms field below) | ||
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| 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 IIIA 18 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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ICD10CM:E76.22 MESH:D009084 MIM:252900 NCI:C84897 ORDO:79269 SNOMEDCT_US_2023_03_01:254070003 UMLS_CUI:C0086647 |
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