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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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