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GMS syndrome
Disease Summary
Associated Targets ()
Mondo Description GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
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.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0002523
MESH:C564214
OMIM:138770
Orphanet:2090
SCTID:716024001
UMLS:C1841854
MONDO:0007679
High level summary of knowledge for a disease, including descriptions and datasource references.