Tooth and Nail Syndrome

Preferred Label : Tooth and Nail Syndrome;

NCIt synonyms : Witkop Syndrome; HND; Hypodontia and Nail Dysplasia; Hypodontia-Nail Dysplasia; Hypodontia with Nail Dysplasia;

NCIt definition : A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs include absent or poorly-formed dentition and brittle, spoon-shaped finger and toenails. Clinical course features an increased incidence of dental caries but is essentially benign.;

Détails

Origin ID

C40553;

UMLS CUI

C0406735;

Automatic exact mappings (from CISMeF team)
- Fried's tooth and nail syndrome (disorder) [SNOMED CT concept]
- Hartnup disorder [OMIM Phenotype]
CISMeF manual mappings
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal dominant hypodontia with nail dysplasia [ICD-11 More detail]
- Hypodontia and nail dysgenesis (disorder) [SNOMED CT concept]
- Hypodontia-dysplasia of nails syndrome [ORDO Disease]
- Witkop syndrome [MeSH concept]
- Witkop syndrome [MeSH Supplementary Concept]
- Witkop syndrome [OMIM Phenotype]
- tooth and nail syndrome [DO Concept]
DO Cross reference
- tooth and nail syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
- Witkop syndrome [MeSH Supplementary Concept]
- Witkop syndrome [OMIM Phenotype]
- Witkop syndrome [MeSH concept]
- tooth and nail syndrome [DO Concept]
disease_has_associated_gene
- MSX1 Gene [NCIt concept]
- MSX1 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_molecular_abnormality
- MSX1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- MSX1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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