Search Ontology:
Human Disease
parastremmatic dwarfism
- Term ID
- DOID:0111539
- Synonyms
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- parastremmatic dysplasia
- 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. (2)
- References
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- GARD:4222
- MESH:C537172
- MIM:168400
- ORDO:2646
- SNOMEDCT_US_2023_03_01:722210007
- UMLS_CUI:C1868616
- Ontology
- Human Disease ( DOID:0111539 )
- is a type of
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Genes Involved
Zebrafish Models