Term Name: | acromesomelic dysplasia, Grebe type |
---|---|
Synonyms: | acromesomelic dysplasia-2A, grebe chondrodysplasia |
Definition: | An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. |
Ontology: | Human Disease [DOID:0080052] ( DOID:0080052 ) |