OBO ID: DOID:0070316
Term Name: Miura type epiphyseal chondrodysplasia Search Ontology:
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
is a type of:
OTHER Miura type epiphyseal chondrodysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NPR2 Epiphyseal chondrodysplasia, Miura type 615923
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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