Harel-Yoon Syndrome
Disease ID: disease_node_20086
Connections displayed (default: 10).
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| Dbxref | MIM:617183, ORDO:496790 |
|---|---|
| Subclassof | DOID_0050736, DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Ocular anomalies-axonal neuropathy-developmental delay syndrome |
| Doid Label | Harel-Yoon syndrome |
| Doid Description | A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_20086 |
| Doid Id | DOID_0081395 |
| Label | Harel-Yoon Syndrome |
- 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) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)