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Abruzzo-Erickson syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0010554:  Abruzzo-Erickson syndrome
GARD:0000360: 
MESH:C535559: 
Orphanet:921: 
SCTID:718574003: 
UMLS:C1844862: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found