loading...| Preferred Name |
parastremmatic dwarfism |
| Synonyms |
parastremmatic dysplasia |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111539 |
| database_cross_reference |
OMIM:168400 MESH:C537172 GARD:4222 UMLS_CUI:C1868616 SNOMEDCT_US_2022_09_01:722210007 ORDO:2646 |
| 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. |
| has exact synonym |
parastremmatic dysplasia |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111539 |
| in_subset | |
| label |
parastremmatic dwarfism |
| notation |
DOID:0111539 |
| prefLabel |
parastremmatic dwarfism |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/168400 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C537172 | Medical Subject Headings | LOOM |