Autosomal Domit Isolated Ectopia Lentis 1
Disease ID: disease_node_13711
Connections displayed (default: 10).
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| Dbxref | MIM:129600, UMLS_CUI:C1851286 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111148 |
| Data Source | DOID |
| Synonyms | ECTOL1 |
| Doid Label | autosomal domit isolated ectopia lentis 1 |
| Doid Description | An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13711 |
| Doid Id | DOID_0111150 |
| Label | Autosomal Domit Isolated Ectopia Lentis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ectopia Lentis(ID:disease_node_2730) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)