OBO ID: DOID:0081238
Term Name: acromesomelic dysplasia-4 Search Ontology:
Synonyms:
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
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRKG2 Acromesomelic dysplasia 4 619636
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None