Phenotypes associated with the disease dermo-odonto dysplasia (OMIM:125640, an entry in Online Mendelian Inheritance in Man):
- Trichodysplasia (HP:0002552, a Human Phenotype Ontology term): Developmental dysplasia of the hair. Evidence: PCS. Frequency: 20/20. (PMID:6616948;OMIM:125640)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 20/20. (PMID:6616948;OMIM:125640)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. (PMID:6616948)
- Ectodermal dysplasia (HP:0000968, a Human Phenotype Ontology term): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: PCS. Frequency: 20/20. (PMID:6616948;OMIM:125640)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. (PMID:6616948)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: IEA. (OMIM:125640)
- Thin skin (HP:0000963, a Human Phenotype Ontology term): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. (PMID:6616948)