OBO ID: DOID:0111539
Term Name: parastremmatic dwarfism Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111539 )
Relationships
is a type of:
OTHER parastremmatic dwarfism PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRPV4 Parastremmatic dwarfism 168400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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