FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Miura type epiphyseal chondrodysplasia ID (Ontology) DOID:0070316 (Human Disease)
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.
Also Known As "ECDM" ; "tall stature-scoliosis-macrodactyly of the great toes syndrome" ; "tall stature-scoliosis-macrodactyly of the halluces syndrome"
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 Genes
 Miura type epiphyseal chondrodysplasia       5
 for disease ribbon | Miura type epiphyseal chondrodysplasia       5
 model of | Miura type epiphyseal chondrodysplasia       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone disease                    |
 |__bone development disease____|
                                Miura type epiphyseal chondrodysplasia  5 rec.
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Is a autosomal dominant disease
bone development disease
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Synonyms
  • "ECDM" EXACT OMO:0003012
    "tall stature-scoliosis-macrodactyly of the great toes syndrome" EXACT
    "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT
Secondary IDs
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MIM:615923
ORDO:329191