FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Jansen's metaphyseal chondrodysplasia ID (Ontology) DOID:0080020 (Human Disease)
Definition A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Also Known As "Jansen Disease" ; "Jansen metaphyseal chondrodysplasia" ; "Jansen Metaphyseal Dysostosis" (for all, see Synonyms field below)
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 Genes
 Jansen's metaphyseal chondrodysplasia       1
 for disease ribbon | Jansen's metaphyseal chondrodysplasia       1
 model of | Jansen's metaphyseal chondrodysplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
osteochondrodysplasia           |
 |__metaphyseal dysplasia_______|
                                Jansen's metaphyseal chondrodysplasia  1 rec.
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Is a autosomal dominant disease
metaphyseal dysplasia
Part of
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Synonyms
  • "Jansen Disease" EXACT
    "Jansen metaphyseal chondrodysplasia" EXACT
    "Jansen Metaphyseal Dysostosis" EXACT
    "Murk Jansen Type Metaphyseal Chondrodysplasia" EXACT
Secondary IDs
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MIM:156400