OBO ID: DOID:0081238 |
Term Name: | acromesomelic dysplasia-4 | Search Ontology: | |
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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/ | ||
References: | |||
Ontology: | Human Disease ( DOID:0081238 ) |
OTHER acromesomelic dysplasia-4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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