FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Desbuquois dysplasia ID (Ontology) DOID:0060462 (Human Disease)
Definition An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Also Known As "Desbuquois syndrome" ; "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification"
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 Genes
 Desbuquois dysplasia       2
 for disease ribbon | Desbuquois dysplasia       2
 model of | Desbuquois dysplasia       2
Spanning Tree (Parents/Children)
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__Desbuquois dysplasia  2 rec.
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Is a osteochondrodysplasia
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Synonyms
  • "Desbuquois syndrome" EXACT
    "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT
Secondary IDs
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GARD:1818
MESH:C535943
MIM:251450
MIM:615777
NCI:C124056
ORDO:1425
SNOMEDCT_US_2023_03_01:254099008
UMLS_CUI:C0432242