geleophysic dysplasia 2 Disease Ontology Browser

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Disease Ontology Browser

geleophysic dysplasia 2 (DOID:0111726)
Alliance: disease page
Synonyms: GPHYSD2
Alt IDs: OMIM:614185
Definition: A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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