Mondo Description Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
Uniprot Description A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.
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:0000360
MESH:C535559
OMIM:302905
Orphanet:921
SCTID:718574003
UMLS:C1844862
MONDO:0010554
High level summary of knowledge for a disease, including descriptions and datasource references.