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CHIME syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Uniprot Description An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.
Mondo Term and Equivalent IDs
MONDO:0010221:  CHIME syndrome
GARD:0000310: 
MESH:C536729: 
Orphanet:3474: 
SCTID:720639008: 
UMLS:C1848392: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found