| Metadata | |
|---|---|
| ID | DOID:0111539 |
| Name | parastremmatic dwarfism |
| Definition | An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs 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/4992387 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722210007 |
| Subsets |
DO_rare_slim |
| Synonyms |
parastremmatic dysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |