Search Ontology:
Human Disease

Miura type epiphyseal chondrodysplasia

Term ID
DOID:0070316
Synonyms
  • ECDM
  • tall stature-scoliosis-macrodactyly of the great toes syndrome
  • tall stature-scoliosis-macrodactyly of the halluces syndrome
Definition
A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (2)
References
Ontology
Human Disease   ( DOID:0070316 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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