Phenotypes associated with the disease Satoyoshi syndrome (ORPHA:3130):
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormality of the ovary (HP:0000137): An abnormality of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Amenorrhea (HP:0000141): Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- 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:3130)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormal joint morphology (HP:0001367): An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- 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:3130)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Nephrogenic diabetes insipidus (HP:0009806): A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Intermittent painful muscle spasms (HP:0011964): History of repeated intermittent involuntary muscle contractions that were painful. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)
- Sparse or absent eyelashes (HP:0200102). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3130)