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metatropic dysplasia
Summary
- Synonym
-
- metatropic dwarfism
- 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.
- Super Class
- autosomal dominant disease spondyloepimetaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0111514
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
