FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term spondyloepiphyseal dysplasia Stanescu type ID (Ontology) DOID:0112281 (Human Disease)
Definition A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Also Known As "SED Stanescu type" ; "SEDSTN"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
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
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease____
osteochondrodysplasia             |
 |__spondyloepiphyseal dysplasia__|
                                  spondyloepiphyseal dysplasia Stanescu type
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
spondyloepiphyseal dysplasia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "SED Stanescu type" EXACT
    "SEDSTN" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MIM:616583
ORDO:459051