Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Disease ID: disease_node_19996
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617360 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | CDK13-Related CHDFIDD, CDK13-Related Disorder, CHDFIDD |
| Doid Label | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
| Doid Description | A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19996 |
| Doid Id | DOID_0112247 |
| Label | Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)