Visualize Submit Comment
Metadata
ID DOID:0111727
Name geleophysic dysplasia 3
Definition A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1.
https://www.ncbi.nlm.nih.gov/pubmed/27068007
Xrefs

OMIM:617809

Synonyms

GPHYSD3 [EXACT]

Parent Relationships

is_a geleophysic dysplasia

is_a autosomal dominant disease

Add an item to the term tracker