Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080051 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models