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| Term | mucopolysaccharidosis | ID (Ontology) | DOID:12798 (Human Disease) | |||||
| Definition | A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. | |||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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inherited metabolic disorder |__lysosomal storage disease |__mucopolysaccharidosis 47 rec. |__mucopolysaccharidosis I 4 rec. | |__mucopolysaccharidosis Ih 1 rec. | |__mucopolysaccharidosis Ih/s 1 rec. | |__Scheie syndrome 1 rec. |__mucopolysaccharidosis II 1 rec. |__mucopolysaccharidosis III 30 rec. | |__mucopolysaccharidosis type IIIA 18 rec. | |__mucopolysaccharidosis type IIIB 5 rec. | |__mucopolysaccharidosis type IIIC 5 rec. | |__mucopolysaccharidosis type IIID 2 rec. |__mucopolysaccharidosis IV 6 rec. | |__mucopolysaccharidosis IVA 4 rec. | |__mucopolysaccharidosis type IVB 2 rec. |__mucopolysaccharidosis IX |__mucopolysaccharidosis type VII 4 rec. |__mucopolysaccharidosis VI 2 rec. |__mucopolysaccharidosis X 5 rec. |
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| Is a | lysosomal storage disease | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:7065 ICD10CM:E76.3 ICD9CM:277.5 MESH:D009083 MIM:PS607014 NCI:C61259 ORDO:79213 SNOMEDCT_US_2023_03_01:267452003 UMLS_CUI:C0026703 |
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