Search Ontology:
Human Disease

Meier-Gorlin syndrome 9

Term ID
DOID:0051069
Synonyms
Definition
A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/35603789/
References
Ontology
Human Disease   ( DOID:0051069 )
Relationships
Other Pages
Genes Involved
Zebrafish Models