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| Term | classic dopamine transporter deficiency syndrome | ID (Ontology) | DOID:0070489 (Human Disease) |
| Definition | A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. | ||
| Also Known As | "classic DTDS" ; "infantile parkinsonism-dystonia 1" ; "PKDYS1" | ||
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| DO.org | |||
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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_______________ |__dopamine transporter deficiency syndrome__| movement disease | |__dopamine transporter deficiency syndrome__| classic dopamine transporter deficiency syndrome 12 rec. |
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autosomal recessive disease dopamine transporter deficiency syndrome |
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GARD:10484 MESH:C567730 MIM:613135 NCI:C129866 ORDO:238455 SNOMEDCT_US_2023_03_01:722763000 UMLS_CUI:C2751067 |
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