- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1657)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Abnormal diaphysis morphology (HP:0000940): An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1657)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Abnormality of the wrist (HP:0003019): Abnormality of the wrist, the structure connecting the hand and the forearm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
- 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: Very frequent (HP:0040281). (ORPHA:1657)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1657)
These phenotypes are associated with the disease Dermatoosteolysis, Kirghizian type (ORPHA:1657).