Acromesomelic Dysplasia, Hunter-Thompson Type
Disease ID: disease_node_15658
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| Dbxref | GARD:506, MIM:201250, ORDO:968 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080049 |
| Data Source | DOID |
| Synonyms | acromesomelic dwarfism, acromesomelic dysplasia-2C |
| Doid Label | acromesomelic dysplasia, Hunter-Thompson type |
| Doid Description | An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15658 |
| Doid Id | DOID_0080051 |
| Label | Acromesomelic Dysplasia, Hunter-Thompson Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)