Phenotypes associated with the disease Winchester syndrome (OMIM:277950):
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 0/2. (PMID:16542393)
- Carpal osteolysis (HP:0001495): Osteolysis affecting carpal bones. Evidence: PCS. Frequency: 2/2. (PMID:16542393)
- Broad metacarpals (HP:0001230): Abnormally broad metacarpal bones. Evidence: PCS. Frequency: 0/2. (PMID:16542393)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/2. (PMID:16542393)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: PCS. Frequency: 0/2. (PMID:16542393)
- Arthropathy (HP:0003040). Evidence: PCS. (PMID:16542393)
- Generalized osteoporosis (HP:0040160). Evidence: PCS. Frequency: 2/2. (PMID:16542393)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463). (PMID:16542393)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 2/2. (PMID:16542393)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:16542393)
- 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:16542393)
- Osteolysis involving tarsal bones (HP:0006234): An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. Evidence: PCS. Frequency: 2/2. (PMID:16542393)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: IEA. (OMIM:277950)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 1/2. Onset: Childhood onset (HP:0011463). (PMID:16542393)