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Summary Literature (0)
DOID:0080051 - acromesomelic dysplasia, Hunter-Thompson type

Disease Ontology 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.

Synonyms: acromesomelic dwarfism, acromesomelic dysplasia-2C

Xenbase Genes : gdf5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008717 - acromesomelic dysplasia 2C, Hunter-Thompson type

MIM:
MIM:201250 - ACROMESOMELIC DYSPLASIA 2C; AMD2C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): acromesomelic dysplasia (is_a), autosomal recessive disease (is_a)