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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:0000122 | Unilateral renal agenesis |
| HP:0000126 | Hydronephrosis |
| HP:0000204 | Cleft upper lip |
| HP:0000347 | Micrognathia |
| HP:0000365 | Hearing impairment |
| HP:0000773 | Short ribs |
| HP:0000835 | Adrenal hypoplasia |
| HP:0000882 | Hypoplastic scapulae |
| HP:0000894 | Short clavicles |
| HP:0000954 | Single transverse palmar crease |
