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DO Term : acromesomelic dysplasia-4 [DOID:0081238] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:619636,
  • 619636
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents