FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term SHOX-related short stature ID (Ontology) DOID:0112120 (Human Disease)
Definition A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively.
Also Known As "idiopathic familial short stature"
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bone disease
 |__bone development disease__
genetic disease               |
 |__monogenic disease_________|
                              SHOX-related short stature
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Is a monogenic disease
bone development disease
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Synonyms
  • "idiopathic familial short stature" EXACT
Secondary IDs
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MIM:300582
ORDO:314795