Visualize Submit Comment
Metadata
ID DOID:0051069
PURL http://purl.obolibrary.org/obo/DOID_0051069 Copy
Name Meier-Gorlin syndrome 9
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/
Xrefs

MIM:621512

Parent Relationships

is_a Meier-Gorlin syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker