| HP term | FDR (all) | IC level | SDHP level | Annotation (direct or inherited) |
Phenotypic Abnormality (PA) | Abnormality of head or neck | 0 | 0.472 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of skull size | 0 | 1.26 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the nervous system | 0 | 0.2543 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the skeletal system | 0 | 0.4621 | -- | DIRECT |
Phenotypic Abnormality (PA) | Muscular hypotonia | 0 | 1.23 | -- | DIRECT |
Phenotypic Abnormality (PA) | Morphological abnormality of the central nervous system | 0 | 0.6284 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the cerebrum | 0 | 1.009 | -- | DIRECT |
Phenotypic Abnormality (PA) | Aplasia/Hypoplasia of the cerebrum | 0 | 1.293 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal axial skeleton morphology | 0 | 0.7344 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal muscle physiology | 0 | 0.7631 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of brain morphology | 0 | 0.7731 | -- | DIRECT |
Phenotypic Abnormality (PA) | Neurodevelopmental delay | 0 | 1.176 | -- | DIRECT |
Phenotypic Abnormality (PA) | Decreased head circumference | 0 | 1.561 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal renal pelvis morphology | 0.0002335 | 1.929 | -- | DIRECT |
Phenotypic Abnormality (PA) | Low-set, posteriorly rotated ears | 0.0005304 | 2.106 | -- | DIRECT |
Phenotypic Abnormality (PA) | Retrognathia | 0.0005637 | 2.106 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the midface | 0.007713 | 2.106 | -- | INHERITED FROM: Abnormality of the cheek |
Phenotypic Abnormality (PA) | Abnormal location of ears | 0.01502 | 1.929 | -- | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Abnormal jaw morphology | 0.03233 | 1.929 | -- | INHERITED FROM: Retrognathia |
Phenotypic Abnormality (PA) | Abnormal emotion/affect behavior | 0.0394 | 1.804 | -- | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior |
Phenotypic Abnormality (PA) | Abnormality of the kidney | 0.06643 | 1.176 | -- | INHERITED FROM: Dilatation of the renal pelvis || Abnormal renal pelvis morphology |
Phenotypic Abnormality (PA) | Abnormality of the urinary system | 0.1781 | 0.8268 | -- | INHERITED FROM: Abnormal renal pelvis morphology || Dilatation of the renal pelvis |
Phenotypic Abnormality (PA) | Abnormal ear morphology | 0.1792 | 1.23 | -- | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Abnormality of facial skeleton | 0.3854 | 1.804 | -- | INHERITED FROM: Retrognathia |
Phenotypic Abnormality (PA) | Abnormality of the face | 0.979 | 0.5614 | -- | INHERITED FROM: Abnormality of the cheek |
Phenotypic Abnormality (PA) | Abnormality of the head | 0 | 0.4771 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the musculature | 0 | 0.6004 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of skeletal morphology | 0 | 0.472 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of nervous system physiology | 0 | 0.4022 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of nervous system morphology | 0 | 0.5677 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the digestive system | 0 | 0.5805 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the genitourinary system | 0.3325 | 0.5432 | Least Informative | INHERITED FROM: Dilatation of the renal pelvis || Abnormal renal pelvis morphology |
Phenotypic Abnormality (PA) | Abnormal skull morphology | 0 | 1.009 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Growth abnormality | 0 | 0.9441 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Aplasia/Hypoplasia involving the central nervous system | 0 | 1.128 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormal muscle tone | 0 | 1.045 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Neurodevelopmental abnormality | 0 | 0.8502 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of forebrain morphology | 0 | 0.9916 | Moderately Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the upper urinary tract | 0.071 | 1.084 | Moderately Informative | INHERITED FROM: Dilatation of the renal pelvis || Abnormal renal pelvis morphology |
Phenotypic Abnormality (PA) | Behavioral abnormality | 0.09216 | 1.176 | Moderately Informative | INHERITED FROM: Abnormal aggressive, impulsive or violent behavior |
Phenotypic Abnormality (PA) | Abnormality of movement | 0.1803 | 1.045 | Moderately Informative | INHERITED FROM: Stereotypy |
Phenotypic Abnormality (PA) | Abnormality of the ear | 0.2311 | 1.176 | Moderately Informative | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Microcephaly | 0 | 1.561 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Seizures | 0 | 1.327 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Global developmental delay | 0 | 1.407 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormal renal morphology | 0.03284 | 1.26 | Informative | INHERITED FROM: Dilatation of the renal pelvis || Abnormal renal pelvis morphology |
Phenotypic Abnormality (PA) | Abnormality of the outer ear | 0.04478 | 1.628 | Informative | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Involuntary movements | 0.1603 | 1.628 | Informative | INHERITED FROM: Stereotypy |
Phenotypic Abnormality (PA) | Stereotypy | 0.000215 | 1.929 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Dilatation of the renal pelvis | 0.0002214 | 1.929 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the cheek | 0.0003444 | 2.106 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormal aggressive, impulsive or violent behavior | 0.000846 | 1.929 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Posteriorly rotated ears | 0.002173 | 1.929 | Highly Informative | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Low-set ears | 0.0126 | 2.106 | Highly Informative | INHERITED FROM: Low-set, posteriorly rotated ears |
Phenotypic Abnormality (PA) | Abnormality of the mandible | 0.02802 | 1.929 | Highly Informative | INHERITED FROM: Retrognathia |