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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:0009438 | Absent middle phalanx of 3rd finger |
| HP:0009565 | Aplasia of the distal phalanx of the 2nd finger |
| HP:0009576 | Absent middle phalanx of 2nd finger |
| HP:0010655 | Epiphyseal stippling |
| HP:0010692 | 2-5 finger syndactyly |
| HP:0010760 | Absent toe |
| HP:0010783 | Erythema |
| HP:0010816 | Epidermal nevus |
