Term Name: | acromesomelic dysplasia-4 |
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Synonyms: | |
Definition: | An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. |
Ontology: | Human Disease [DOID:0081238] ( DOID:0081238 ) |