Phenotypes associated with the disease odonto-onycho-dermal dysplasia (OMIM:257980):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:15316967)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: PCS. (PMID:15316967)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: TAS. (OMIM:257980)
- Orthokeratosis (HP:0040162): Formation of an anuclear keratin layer. Evidence: IEA. (OMIM:257980)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 7/10. (PMID:19559398)
- Dry hair (HP:0011359): Hair that lacks the luster (shine or gleam) of normal hair. Evidence: TAS. (OMIM:257980)
- Dystrophic fingernails (HP:0008391): The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. Evidence: TAS. Frequency: 3/3. (OMIM:257980)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 6/10. (PMID:19559398)
- Smooth tongue (HP:0010298): Glossy appearance of the entire tongue surface. Evidence: PCS. Frequency: 2/3. (PMID:15316967)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Ridged nail (HP:0001807): Longitudinal, linear prominences in the nail plate. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Conical incisor (HP:0011065): An abnormal conical morphology of the incisor tooth. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 3/10. (PMID:19559398)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: PCS. Frequency: 2/10. (PMID:19559398)
- Palmoplantar hyperkeratosis (HP:0000972): Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. Evidence: PCS. Frequency: 2/3. (PMID:15316967)
- Widely spaced primary teeth (HP:0006313): Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. Evidence: PCS. Frequency: 3/3. (PMID:15316967)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. (OMIM:257980)
- Palmoplantar erythema (HP:0025493): Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Hypergranulosis (HP:0025114): Hypergranulosis is an increased thickness of the stratum granulosum. Evidence: IEA. (OMIM:257980)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 5/8. (PMID:19559398)
- Epidermal acanthosis (HP:0025092): Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). Evidence: TAS. (OMIM:257980)
- Abnormal primary tooth morphology (HP:0006481): Any abnormality of the primary tooth. Evidence: PCS. Frequency: 5/11. (PMID:19559398)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: IEA. (OMIM:257980)
- Thin nail (HP:0001816): Nail that appears thin when viewed on end. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. (OMIM:257980)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 9/13. (PMID:15316967;PMID:19559398)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:19559398)
- Palmoplantar hyperhidrosis (HP:0007410): An abnormally increased perspiration on palms and soles. Evidence: PCS. Frequency: 1/3. (PMID:15316967)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 3/10. (PMID:19559398)
- Plantar hyperkeratosis (HP:0007556): Hyperkeratosis affecting the sole of the foot. Evidence: PCS. Frequency: 3/10. (PMID:19559398)
- Dystrophic toenail (HP:0001810): Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 7/11. (PMID:19559398)
- Short nail (HP:0001799): Decreased length of nail. Evidence: PCS. Frequency: 3/3. (PMID:15316967)
- 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: 10/10. (PMID:19559398)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. (OMIM:257980)