acromesomelic dysplasia-4 Disease Ontology Browser

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Disease Ontology Browser

acromesomelic dysplasia-4 (DOID:0081238)
Alliance: disease page
Alt IDs: OMIM:619636
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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