Optic Nerve Hypoplasia
Disease ID: disease_node_433
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| Dbxref | GARD:8419, ICD10CM:H47.03, ICD9CM:377.43, MESH:D000080344, MIM:165550, NCI:C98999, ORDO:137902, SNOMEDCT_US_2023_03_01:95499004, UMLS_CUI:C0338502 |
|---|---|
| Subclassof | DOID_0050736, DOID_1891 |
| Data Source | DOID, MESH |
| Synonyms | ONH, familial bilateral optic nerve hypoplasia, isolated optic nerve hypoplasia/aplasia |
| Mesh Id | D000080344 |
| Mesh Label | Optic Nerve Hypoplasia |
| Mesh Subclassof | D015785, D009901, D009421 |
| Doid Label | bilateral optic nerve hypoplasia |
| Doid Description | An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_433 |
| Doid Id | DOID_0111531 |
| Label | Optic Nerve Hypoplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)