Cone-Rod Dystrophy 22
Disease ID: disease_node_16595
Connections displayed (default: 10).
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| Dbxref | MIM:619531 |
|---|---|
| Subclassof | DOID_0050572, DOID_0050737 |
| Data Source | DOID |
| Doid Label | cone-rod dystrophy 22 |
| Doid Description | A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16595 |
| Doid Id | DOID_0081448 |
| Label | Cone-Rod Dystrophy 22 |
- Outgoing r'ship
SUBCLASS_OFto/from Cone-Rod Dystrophy(ID:disease_node_16580) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)