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| Term | mucopolysaccharidosis type IIIB | ID (Ontology) | DOID:0111394 (Human Disease) |
| Definition | A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. | ||
| Also Known As | "MPS3B" ; "MPSIIIB" ; "Mucopoly-saccharidosis type 3B" (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 IIIB 5 rec. |
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| Is a |
autosomal recessive disease mucopolysaccharidosis III |
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External Crossreferences & Linkouts
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GARD:7072 ICD10CM:E76.22 MESH:D009084 MIM:252920 NCI:C84898 ORDO:79270 SNOMEDCT_US_2023_03_01:254071004 UMLS_CUI:C0086648 |
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