Disease association ontology term - MONDO:0010221 - CHIME syndrome

Term summary

ID

MONDO:0010221

Name

CHIME syndrome

Ontology or CV name

Disease association

Definition

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

Parents

• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a syndromic dyslipidemia
• is_a inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
• is_a ectodermal dysplasia syndrome
• is_a disorder of visual system
• is_a cardiogenetic disease

Annotation