Kenny-Caffey Syndrome Type 1
Disease ID: disease_node_15653
Connections displayed (default: 10).
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| Dbxref | GARD:8367, MIM:244460, ORDO:93324 |
|---|---|
| Subclassof | DOID_0080724, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Kenny-Caffey syndrome type 1 |
| Doid Description | A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15653 |
| Doid Id | DOID_0080722 |
| Label | Kenny-Caffey Syndrome Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Kenny-Caffey Syndrome(ID:disease_node_15651) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)