OBO ID: DOID:0080051
Term Name: acromesomelic dysplasia, Hunter-Thompson type Search Ontology:
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)
OTHER acromesomelic dysplasia, Hunter-Thompson type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDF5 ?Acromesomelic dysplasia 2C, Hunter-Thompson type 201250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None