| Metadata | |
|---|---|
| ID | DOID:0111553 |
| Name | spondyloepiphyseal dysplasia Maroteaux type |
| Definition | An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. https://www.ncbi.nlm.nih.gov/pubmed/20503319, https://www.ncbi.nlm.nih.gov/pubmed/2229114 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719204007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Brachyolmia Type 2 [EXACT] Pseudo-Morquio syndrome type 2 [EXACT] SED, Maroteaux type [EXACT] spondyloepiphyseal dysplasia of Maroteaux [EXACT] |
| Parent Relationships |