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CHILD syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111822
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000962 | Hyperkeratosis |
| HP:0001036 | Parakeratosis |
| HP:0001159 | Syndactyly |
| HP:0001256 | Intellectual disability, mild |
| HP:0001371 | Flexion contracture |
| HP:0001374 | Congenital hip dislocation |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001537 | Umbilical hernia |
| HP:0001596 | Alopecia |
| HP:0001671 | Abnormal cardiac septum morphology |
