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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:0001750 | Single ventricle |
| HP:0001792 | Small nail |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002650 | Scoliosis |
| HP:0002977 | Aplasia/Hypoplasia involving the central nervous system |
| HP:0003462 | Elevated 8-dehydrocholesterol |
| HP:0003465 | Elevated 8(9)-cholestenol |
| HP:0003577 | Congenital onset |
| HP:0003764 | Nevus |
| HP:0003826 | Stillbirth |
