DISEASES

Disease-gene associations mined from literature

Human genes for acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dysplasia, Hunter-Thompson type [DOID:0080051]

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.

Synonyms:  acromesomelic dysplasia, Hunter-Thompson type,  acromesomelic dysplasia HunterThompson type,  DOID:0080051,  Hunter-Thompson type acromesomelic dysplasia,  acromesomelic dwarfism ...

Linkouts:  OMIM