Phenotypes associated with the disease Isolated radial hemimelia (ORPHA:93321):
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:93321)
- Abnormal thumb morphology (HP:0001172): An abnormal structure of the first digit of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93321)
- Abnormal scaphoid morphology (HP:0004243): Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93321)
- Abnormal trapezium morphology (HP:0004252): An anomaly of the trapezium, which is the carpal bone located at the base of the thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93321)
- Deviation of the hand or of fingers of the hand (HP:0009484): Displacement of the hand or of fingers of the hand from their normal position. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93321)
- Aplasia of the 1st metacarpal (HP:0010035): Absent first metacarpal (long bone) of the hand. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:93321)