Term Name: | acromesomelic dysplasia, Hunter-Thompson type |
---|---|
Synonyms: | acromesomelic dwarfism, acromesomelic dysplasia-2C |
Definition: | 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. |
Ontology: | Human Disease [DOID:0080051] ( DOID:0080051 ) |