| Metadata | |
|---|---|
| ID | DOID:1932 |
| Name | Angelman syndrome |
| Definition | A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. https://en.wikipedia.org/wiki/Angelman_syndrome, https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes, https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:76880004 |
| SKOS |
exactMatch MESH:D017204 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
happy puppet syndrome [EXACT] puppetlike syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
maternally_imprinted and loss_of_function_variant or paternal_uniparental_disomy and loss_of_function_variant or loss_of_function_variant and disease has location exactly 1 (gene) or has material basis in min 1 (maternal_variant and loss_of_function_variant and chromosomal_deletion) has material basis in some loss_of_function_variant |