OBO ID: DOID:12721
Term Name: multiple epiphyseal dysplasia Search Ontology:
Synonyms:
  • polyepiphyseal dysplasia
Definition: An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (5)
References:
Ontology: Human Disease   (DOID:12721)
Relationships
is a type of:
has subtype:
OTHER multiple epiphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL9A1 ?Epiphyseal dysplasia, multiple, 6 614135
COL9A2 Epiphyseal dysplasia, multiple, 2 600204
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
COMP Epiphyseal dysplasia, multiple, 1 132400
MATN3 Epiphyseal dysplasia, multiple, 5 607078
SLC26A2 Epiphyseal dysplasia, multiple, 4 226900
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None