acromesomelic dysplasia, Hunter-Thompson type

Term ID

DOID:0080051

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. (2)

References

• GARD:506
• OMIM:201250
• ORDO:968

Ontology

Human Disease   ( DOID:0080051 )