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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

MIM:617809

Synonyms

GPHYSD3 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a geleophysic dysplasia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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