Disease association ontology term - MONDO:0010621 - CHILD syndrome

Term summary

ID

MONDO:0010621

Name

CHILD syndrome

Ontology or CV name

Disease association

Definition

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

Parents

• is_a bone benign neoplasm
• is_a melanocytic nevus
• is_a multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• is_a syndromic dyslipidemia
• is_a X-linked ichthyosis syndrome
• is_a sterol biosynthesis disorder
• is_a chondrodysplasia punctata
• is_a hereditary disorder of connective tissue
• is_a hereditary skin disorder

Annotation