Mondo Description Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Uniprot Description A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0004861
NCIT:C124840
OMIM:182212
Orphanet:2462
SCTID:719069008
UMLS:C1321551
MONDO:0008426
High level summary of knowledge for a disease, including descriptions and datasource references.