Search Ontology:
Human Disease
KBG syndrome
- Term ID
- DOID:14780
- Synonyms
-
- Definition
- A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (2)
- References
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- GARD:82
- MESH:C537015
- MIM:148050
- ORDO:2332
- SNOMEDCT_US_2023_03_01:711156009
- UMLS_CUI:C0220687
- Ontology
- Human Disease ( DOID:14780 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models