| Metadata | |
|---|---|
| ID | DOID:0070490 |
| Name | infantile parkinsonism-dystonia 2 |
| Definition | A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. https://pubmed.ncbi.nlm.nih.gov/23363473/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:717942003 |
| SKOS |
exactMatch GARD:13594 exactMatch MIM:618049 exactMatch UMLS_CUI:C4747991 exactMatch SNOMEDCT_US_2023_03_01:717942003 exactMatch UMLS_CUI:C4303546 broadMatch MIM:PS613135 |
| Subsets |
DO_rare_slim |
| Synonyms |
Brain dopamine-serotonin vesicular transport disease [EXACT] PKDYS2 [EXACT] |
| Parent Relationships |
is_a movement disease |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |