OBO ID: DOID:0070303
Term Name: multiple epiphyseal dysplasia 1 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0070303 )
OTHER multiple epiphyseal dysplasia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COMP Epiphyseal dysplasia, multiple, 1 132400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None