Acheiropody
Disease ID: disease_node_15682
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| Dbxref | GARD:376, MIM:200500 |
|---|---|
| Subclassof | DOID_2256, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Acheiropodia, Horn-Kolb Syndrome |
| Doid Label | acheiropody |
| Doid Description | An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15682 |
| Doid Id | DOID_0050603 |
| Label | Acheiropody |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)