Search Ontology:
Human Disease

parastremmatic dwarfism

Term ID
DOID:0111539
Synonyms
  • 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
  • GARD:4222
  • MESH:C537172
  • MIM:168400
  • ORDO:2646
  • SNOMEDCT_US_2023_03_01:722210007
  • UMLS_CUI:C1868616
Ontology
Human Disease   ( DOID:0111539 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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