Leber Congenital Amaurosis With Early-Onset Deafness
Disease ID: disease_node_17994
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617879 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050155 |
| Data Source | DOID |
| Synonyms | LCAEOD |
| Doid Label | Leber congenital amaurosis with early-onset deafness |
| Doid Description | A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17994 |
| Doid Id | DOID_0112240 |
| Label | Leber Congenital Amaurosis With Early-Onset Deafness |
- Outgoing r'ship
SUBCLASS_OFto/from Sensory System Disease(ID:disease_node_14074) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)