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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:0004322 | Short stature |
| HP:0004692 | 4-5 toe syndactyly |
| HP:0005280 | Depressed nasal bridge |
| HP:0005990 | Thyroid hypoplasia |
| HP:0006101 | Finger syndactyly |
| HP:0007431 | Congenital ichthyosiform erythroderma |
| HP:0008417 | Vertebral hypoplasia |
| HP:0008839 | Hypoplastic pelvis |
| HP:0008883 | Mild intrauterine growth retardation |
| HP:0009429 | Aplasia of the distal phalanx of the 3rd finger |
