Phenotypes associated with the disease hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (OMIM:614441):
- Periostosis (HP:0030314): Abnormal deposition of periosteal bone. Evidence: PCS. (OMIM:614441)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/5. (PMID:23509104)
- Seborrheic dermatitis (HP:0001051): Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. Evidence: PCS. Frequency: 5/7. (PMID:23509104)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/7. (PMID:23509104)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 5/7. (PMID:23509104)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: PCS. Frequency: 5/7. (PMID:23509104)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: PCS. Frequency: 5/7. (PMID:23509104)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: IEA. (OMIM:614441)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/5. (PMID:23509104)
- 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:23509104)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 5/7. (PMID:23509104)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: PCS. Frequency: 1/7. (PMID:23509104)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: PCS. Frequency: 7/7. (PMID:23509104)