Metadata | |
---|---|
ID | DOID:0060486 |
Name | Perry syndrome |
Definition | A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. https://ghr.nlm.nih.gov/condition/perry-syndrome, http://www.ncbi.nlm.nih.gov/books/NBK47027/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
parkinsonism with alveolar hypoventilation and mental depression [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |