Metadata | |
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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/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |