FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term multiple epiphyseal dysplasia 1 ID (Ontology) DOID:0070303 (Human Disease)
Definition A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
Also Known As "EDM1" ; "MED1" ; "multiple epiphyseal dysplasia COMP-related" (for all, see Synonyms field below)
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
 multiple epiphyseal dysplasia 1       1
 for disease ribbon | multiple epiphyseal dysplasia 1       1
 model of | multiple epiphyseal dysplasia 1       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_____
osteochondrodysplasia              |
 |__multiple epiphyseal dysplasia__|
                                   multiple epiphyseal dysplasia 1  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
multiple epiphyseal dysplasia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "EDM1" EXACT OMO:0003012
    "MED1" EXACT OMO:0003012
    "multiple epiphyseal dysplasia COMP-related" EXACT
    "polyepiphyseal dysplasia type 1" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:2180
MESH:C535501
MIM:132400
ORDO:93308
SNOMEDCT_US_2023_03_01:715673002
UMLS_CUI:C1838280