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 )

Relationships
is a type of: acromesomelic dysplasia autosomal recessive disease