FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CHILD syndrome ID (Ontology) DOID:0111822 (Human Disease)
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.
Also Known As "CHILD nevus" ; "congenital hemidysplasia with ichthyosiform nevus and limbs defects"
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Records annotated with this term OR any of its CHILD TERMS
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 Genes
 CHILD syndrome       1
 for disease ribbon | CHILD syndrome       1
 model of | CHILD syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
disease                        |
 |__syndrome___________________|
                               CHILD syndrome  1 rec.
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Is a X-linked dominant disease
syndrome
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Synonyms
  • "CHILD nevus" EXACT
    "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT
Secondary IDs
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GARD:6039
MESH:C562515
MIM:308050
ORDO:139
SNOMEDCT_US_2023_03_01:17608003
UMLS_CUI:C0265267