| Metadata | |
|---|---|
| ID | DOID:11983 |
| Name | Prader-Willi syndrome |
| Definition | A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. https://www.ncbi.nlm.nih.gov/books/NBK1330/, https://ghr.nlm.nih.gov/condition/prader-willi-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:205794007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Prader Willi syndrome [EXACT] |
| Parent Relationships |
is_a chromosomal disease is_a syndrome |
| Subclass Logical Relationships |
disease has basis in some symptom has material basis in min 1 (maternal_uniparental_disomy and loss_of_function_variant or paternal_variant and loss_of_function_variant and chromosomal_deletion or loss_of_function_variant and chromosomal_translocation) |