Koolen De Vries Syndrome
Disease ID: disease_node_20165
Connections displayed (default: 10).
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| Dbxref | GARD:10727, MIM:610443, ORDO:96169 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | 17q21.31 microdeletion syndrome, KANSL1-related intellectual disability syndrome, KdVS, Koolen-De Vries syndrome |
| Doid Label | Koolen de Vries syndrome |
| Doid Description | A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20165 |
| Doid Id | DOID_0050880 |
| Label | Koolen De Vries Syndrome |
| Doid Alternate Ids | DOID_0070076 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)