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Disease Ontology Browser
CHILD syndrome (DOID:0111822)
Alliance: disease page
Synonyms: CHILD nevus; congenital hemidysplasia with ichthyosiform nevus and limbs defects
Alt IDs: OMIM:308050, MESH:C562515, ORDO:139, UMLS_CUI:C0265267
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory