FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term parastremmatic dwarfism ID (Ontology) DOID:0111539 (Human Disease)
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.
Also Known As "parastremmatic dysplasia"
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 Genes
 parastremmatic dwarfism       1
 for disease ribbon | parastremmatic dwarfism       1
 model of | parastremmatic dwarfism       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                parastremmatic dwarfism  1 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
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Synonyms
  • "parastremmatic dysplasia" EXACT
Secondary IDs
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GARD:4222
MESH:C537172
MIM:168400
ORDO:2646
SNOMEDCT_US_2023_03_01:722210007
UMLS_CUI:C1868616