Phenotypes associated with the disease tooth and nail syndrome (OMIM:189500):
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: PCS. Frequency: 0/9. (PMID:11369996)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: IEA. (OMIM:189500)
- Hypoplastic fifth toenail (HP:0011937): Underdeveloped nails of the fifth toes. Evidence: PCS. Frequency: 9/9. (PMID:11369996)
- Nail pits (HP:0001803): Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. Evidence: IEA. (OMIM:189500)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/9. (PMID:11369996)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: PCS. Frequency: 9/9. (PMID:11369996)
- Microdontia of primary teeth (HP:0006347): Decreased size of the primary teeth. Evidence: PCS. (PMID:11369996)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11369996)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 0/9. (PMID:11369996)
- Agenesis of permanent teeth (HP:0006349): A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. Evidence: PCS. Frequency: 9/9. (PMID:11369996)