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CHILD syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description 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.
Uniprot Description An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
Mondo Term and Equivalent IDs
MONDO:0010621:  CHILD syndrome
GARD:0006039: 
MESH:C562515: 
Orphanet:139: 
SCTID:17608003: 
UMLS:C0265267: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)