Search Ontology: 
        
        Human Disease
            CHILD syndrome
- Term ID
- DOID:0111822
- Synonyms
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        - CHILD nevus
- congenital hemidysplasia with ichthyosiform nevus and limbs defects
 
- Definition
- A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/7408908
- References
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    - GARD:6039
- MESH:C562515
- MIM:308050
- ORDO:139
- SNOMEDCT_US_2023_03_01:17608003
- UMLS_CUI:C0265267
 
- Ontology
- Human Disease ( DOID:0111822 )
                
                    
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