Visualize Submit Comment
Metadata
ID DOID:14780
Name KBG syndrome
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.
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome, https://www.kbgfoundation.com/home.html
Xrefs

GARD:82

MESH:C537015

OMIM:148050

ORDO:2332

SNOMEDCT_US_2023_03_01:711156009

UMLS_CUI:C0220687

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a spinal disease

Add an item to the term tracker