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DO Term : Miura type epiphyseal chondrodysplasia [DOID:0070316] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • tall stature-scoliosis-macrodactyly of the great toes syndrome,
  • ECDM,
  • ORDO:329191,
  • tall stature-scoliosis-macrodactyly of the halluces syndrome,
  • OMIM:615923,
  • 615923
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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