FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term metatropic dysplasia ID (Ontology) DOID:0111514 (Human Disease)
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.
Also Known As "metatropic dwarfism"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 metatropic dysplasia       1
 for disease ribbon | metatropic dysplasia       1
 model of | metatropic dysplasia       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease________
spinal disease                        |
 |__spondyloepimetaphyseal dysplasia__|
osteochondrodysplasia                 |
 |__spondyloepimetaphyseal dysplasia__|
                                      metatropic dysplasia  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
spondyloepimetaphyseal dysplasia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "metatropic dwarfism" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:3571
MESH:C537356
MIM:156530
NCI:C175209
ORDO:2635
SNOMEDCT_US_2023_03_01:22764001
UMLS_CUI:C0265281