Search Ontology:
Human Disease
Desbuquois dysplasia
- Term ID
- DOID:0060462
- Synonyms
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- Desbuquois syndrome
- micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
- Definition
- An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (2)
- References
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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
- Ontology
- Human Disease ( DOID:0060462 )
- is a type of
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Genes Involved
Zebrafish Models