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Disease Ontology Browser
metatropic dysplasia (DOID:0111514)
Alliance: disease page
Synonyms: metatropic dwarfism
Alt IDs: OMIM:156530, MESH:C537356, NCI:C175209, ORDO:2635, UMLS_CUI:C0265281
Definition: A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory