| Metadata | |
|---|---|
| ID | DOID:0111514 |
| Name | metatropic dysplasia |
| 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. https://ghr.nlm.nih.gov/condition/metatropic-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/18348257, https://www.ncbi.nlm.nih.gov/pubmed/4963592 |
| Xrefs |
SNOMEDCT_US_2023_03_01:22764001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
metatropic dwarfism [EXACT] |
| Parent Relationships |