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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

MIM:619636

Parent Relationships

is_a autosomal recessive disease

is_a acromesomelic dysplasia

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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