Search Ontology:
Human Disease

metatropic dysplasia

Term ID
DOID:0111514
Synonyms
  • metatropic dwarfism
Definition
A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (3)
References
  • GARD:3571
  • MESH:C537356
  • MIM:156530
  • NCI:C175209
  • ORDO:2635
  • SNOMEDCT_US_2023_03_01:22764001
  • UMLS_CUI:C0265281
Ontology
Human Disease   ( DOID:0111514 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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