Search Ontology:
Human Disease
multiple epiphyseal dysplasia 1
- Term ID
- DOID:0070303
- Synonyms
-
- EDM1
- MED1
- multiple epiphyseal dysplasia COMP-related
- polyepiphyseal dysplasia type 1
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (2)
- References
-
- GARD:2180
- MESH:C535501
- MIM:132400
- ORDO:93308
- SNOMEDCT_US_2023_03_01:715673002
- UMLS_CUI:C1838280
- Ontology
- Human Disease ( DOID:0070303 )
- is a type of
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Genes Involved
Zebrafish Models