Intellectual Developmental Disorder With Cardiac Arrhythmia
Disease ID: disease_node_20280
Connections displayed (default: 10).
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| Dbxref | MIM:617173, ORDO:542306 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | GNB5-related intellectual disability-cardiac arrhythmia syndrome |
| Doid Label | intellectual developmental disorder with cardiac arrhythmia |
| Doid Description | A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20280 |
| Doid Id | DOID_0081008 |
| Label | Intellectual Developmental Disorder With Cardiac Arrhythmia |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)