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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	GARD:4222 MESH:C537172 OMIM:168400 ORDO:2646 SNOMEDCT_US_2023_03_01:722210007 UMLS_CUI:C1868616
Subsets	DO_rare_slim
Synonyms	parastremmatic dysplasia [EXACT]
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease