| Metadata | |
|---|---|
| ID | DOID:0081238 |
| Name | acromesomelic dysplasia 4 |
| 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. https://pubmed.ncbi.nlm.nih.gov/33106379/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |