| HP term | FDR (all) | IC level | SDHP level | Annotation (direct or inherited) |
Phenotypic Abnormality (PA) | Abnormal eye morphology | 0 | 0.7812 | -- | DIRECT |
Phenotypic Abnormality (PA) | Arterial dissection | 0.00000001174 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Glaucoma | 0.0000001263 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Enlarged thorax | 0.0000001783 | 2.161 | -- | DIRECT |
Phenotypic Abnormality (PA) | Osteoarthritis | 0.0000002268 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Ascending tubular aorta aneurysm | 0.0000003278 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Retinal detachment | 0.00000117 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Atrophic scars | 0.000001876 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Inguinal hernia | 0.000002384 | 2.161 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal mitral valve morphology | 0.000002655 | 1.763 | -- | DIRECT |
Phenotypic Abnormality (PA) | Decreased corneal thickness | 0.000003041 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Slender finger | 0.000004185 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Venous insufficiency | 0.000004724 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Genital hernia | 0.000006645 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal atrioventricular valve morphology | 0.000006669 | 1.763 | -- | DIRECT |
Phenotypic Abnormality (PA) | Blue sclerae | 0.00004163 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Thoracic aortic aneurysm | 0.00004163 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abdominal wall defect | 0.00004273 | 1.86 | -- | DIRECT |
Phenotypic Abnormality (PA) | Joint hyperflexibility | 0.00005373 | 1.617 | -- | DIRECT |
Phenotypic Abnormality (PA) | Dermal atrophy | 0.00006748 | 2.161 | -- | DIRECT |
Phenotypic Abnormality (PA) | Hip dislocation | 0.00007459 | 1.617 | -- | DIRECT |
Phenotypic Abnormality (PA) | Long fingers | 0.00007459 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Thin skin | 0.00007654 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the abdominal wall | 0.00008135 | 1.763 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal morphology of the abdominal musculature | 0.0001113 | 2.161 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of pelvic girdle bone morphology | 0.0001383 | 1.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Lower extremity joint dislocation | 0.0001616 | 1.617 | -- | DIRECT |
Phenotypic Abnormality (PA) | Pneumothorax | 0.0001781 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Microdontia | 0.0002073 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | High, narrow palate | 0.0002363 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the spinal cord | 0.0004022 | 1.763 | -- | DIRECT |
Phenotypic Abnormality (PA) | Talipes | 0.0004718 | 1.86 | -- | DIRECT |
Phenotypic Abnormality (PA) | Spina bifida | 0.0004888 | 1.86 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal venous morphology | 0.0008383 | 2.462 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of refraction | 0.0009529 | 1.86 | -- | DIRECT |
Phenotypic Abnormality (PA) | Abnormal neural tube morphology | 0.001251 | 1.763 | -- | INHERITED FROM: Spina bifida |
Phenotypic Abnormality (PA) | Abnormal elasticity of skin | 0.001264 | 2.161 | -- | INHERITED FROM: Abnormally lax or hyperextensible skin |
Phenotypic Abnormality (PA) | Abnormal sclera morphology | 0.001495 | 2.462 | -- | INHERITED FROM: Blue sclerae |
Phenotypic Abnormality (PA) | Subcutaneous hemorrhage | 0.00204 | 1.763 | -- | INHERITED FROM: Bruising susceptibility |
Phenotypic Abnormality (PA) | Abnormality of corneal thickness | 0.002049 | 2.462 | -- | INHERITED FROM: Decreased corneal thickness |
Phenotypic Abnormality (PA) | Abnormal lung morphology | 0.002932 | 1.207 | -- | INHERITED FROM: Pneumothorax |
Phenotypic Abnormality (PA) | Skin nodule | 0.004356 | 1.985 | -- | INHERITED FROM: Subcutaneous nodule |
Phenotypic Abnormality (PA) | Headache | 0.004375 | 1.86 | -- | INHERITED FROM: Migraine |
Phenotypic Abnormality (PA) | Abnormality of joint mobility | 0.005771 | 1.14 | -- | INHERITED FROM: Joint hyperflexibility |
Phenotypic Abnormality (PA) | Abnormal ear morphology | 0.006256 | 1.047 | -- | INHERITED FROM: Abnormality of the outer ear |
Phenotypic Abnormality (PA) | Scarring | 0.007193 | 2.161 | -- | INHERITED FROM: Atrophic scars |
Phenotypic Abnormality (PA) | Abnormality of the foot | 0.008777 | 1.082 | -- | INHERITED FROM: Talipes || Talipes equinovarus |
Phenotypic Abnormality (PA) | Abnormal digit morphology | 0.00893 | 1.14 | -- | INHERITED FROM: Long fingers || Slender finger |
Phenotypic Abnormality (PA) | Abnormality of the synovia | 0.01131 | 1.508 | -- | INHERITED FROM: Abnormality of the hip joint || Hip dislocation |
Phenotypic Abnormality (PA) | Abnormal retinal morphology | 0.01208 | 1.684 | -- | INHERITED FROM: Retinal detachment |
Phenotypic Abnormality (PA) | Positional foot deformity | 0.01305 | 1.86 | -- | INHERITED FROM: Talipes equinovarus || Talipes |
Phenotypic Abnormality (PA) | Abnormal oral mucosa morphology | 0.01389 | 1.258 | -- | INHERITED FROM: Abnormality of the gingiva |
Phenotypic Abnormality (PA) | Dilatation | 0.01591 | 1.763 | -- | INHERITED FROM: Ascending tubular aorta aneurysm || Thoracic aortic aneurysm || Aortic aneurysm |
Phenotypic Abnormality (PA) | Abnormality of limb bone | 0.01625 | 0.9572 | -- | INHERITED FROM: Slender finger || Long fingers |
Phenotypic Abnormality (PA) | Abnormal bleeding | 0.01759 | 1.286 | -- | INHERITED FROM: Bruising susceptibility |
Phenotypic Abnormality (PA) | Abnormality of lower limb joint | 0.01938 | 1.348 | -- | INHERITED FROM: Abnormality of the hip joint || Hip dislocation |
Phenotypic Abnormality (PA) | Narrow palate | 0.02001 | 2.462 | -- | INHERITED FROM: High, narrow palate |
Phenotypic Abnormality (PA) | Abnormality of dental morphology | 0.02055 | 2.462 | -- | INHERITED FROM: Microdontia |
Phenotypic Abnormality (PA) | Abnormal appendicular skeleton morphology | 0.02314 | 0.8289 | -- | INHERITED FROM: Abnormality of pelvic girdle bone morphology || Abnormality of the hip joint || Long fingers || Slender finger || Hip dislocation |
Phenotypic Abnormality (PA) | Abnormality of the respiratory system | 0.03837 | 0.9183 | -- | INHERITED FROM: Pneumothorax |
Phenotypic Abnormality (PA) | Abnormal oral morphology | 0.05956 | 0.7381 | -- | INHERITED FROM: High, narrow palate || Microdontia || Abnormality of the gingiva |
Phenotypic Abnormality (PA) | Abnormality of the mouth | 0.07598 | 0.7065 | -- | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
Phenotypic Abnormality (PA) | Abnormal aortic morphology | 0.0888 | 1.763 | -- | INHERITED FROM: Thoracic aortic aneurysm || Aortic aneurysm || Ascending tubular aorta aneurysm |
Phenotypic Abnormality (PA) | Abnormality of cardiovascular system morphology | 0.09824 | 0.8391 | -- | INHERITED FROM: Arterial dissection || Mitral valve prolapse || Abnormal venous morphology || Venous insufficiency || Aortic aneurysm || Ascending tubular aorta aneurysm || Abnormal heart valve morphology || Thoracic aortic aneurysm || Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology |
Phenotypic Abnormality (PA) | Abnormal axial skeleton morphology | 0.1233 | 0.6771 | -- | INHERITED FROM: Enlarged thorax |
Phenotypic Abnormality (PA) | Abnormality of the vasculature | 0.1298 | 0.7142 | -- | INHERITED FROM: Bruising susceptibility || Aortic aneurysm || Thoracic aortic aneurysm || Ascending tubular aorta aneurysm || Arterial dissection || Venous insufficiency || Abnormal venous morphology |
Phenotypic Abnormality (PA) | Generalized abnormality of skin | 0.1494 | 1.383 | -- | INHERITED FROM: Bruising susceptibility |
Phenotypic Abnormality (PA) | Morphological abnormality of the central nervous system | 0.1575 | 0.533 | -- | INHERITED FROM: Abnormality of the spinal cord || Spina bifida |
Phenotypic Abnormality (PA) | Abnormality of skin morphology | 0.1834 | 0.7722 | -- | INHERITED FROM: Dermal atrophy || Thin skin || Atrophic scars || Bruising susceptibility || Abnormally lax or hyperextensible skin || Subcutaneous nodule |
Phenotypic Abnormality (PA) | Spinal dysraphism | 0.1945 | 1.763 | -- | INHERITED FROM: Spina bifida |
Phenotypic Abnormality (PA) | Abnormality of the skeletal system | 0.273 | 0.4712 | -- | INHERITED FROM: Long fingers || Abnormality of the hip joint || Abnormality of pelvic girdle bone morphology || Osteoarthritis || Hip dislocation || Enlarged thorax || Lower extremity joint dislocation || Slender finger || Joint hyperflexibility |
Phenotypic Abnormality (PA) | Abnormality of the head | 0.2872 | 0.4538 | -- | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
Phenotypic Abnormality (PA) | Abnormality of the upper limb | 0.2924 | 0.9183 | -- | INHERITED FROM: Slender finger || Long fingers |
Phenotypic Abnormality (PA) | Abnormality of head or neck | 0.2951 | 0.4454 | -- | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
Phenotypic Abnormality (PA) | Abnormality of finger | 0.2999 | 1.258 | -- | INHERITED FROM: Long fingers || Slender finger |
Phenotypic Abnormality (PA) | Abnormal posterior eye segment morphology | 0.3844 | 1.421 | -- | INHERITED FROM: Retinal detachment |
Phenotypic Abnormality (PA) | Abnormality of the skin | 0.5372 | 0.722 | -- | INHERITED FROM: Atrophic scars || Bruising susceptibility || Abnormally lax or hyperextensible skin || Subcutaneous nodule || Dermal atrophy || Thin skin |
Phenotypic Abnormality (PA) | Abnormality of the hip bone | 0.5562 | 1.508 | -- | INHERITED FROM: Hip dislocation || Abnormality of the hip joint |
Phenotypic Abnormality (PA) | Abnormality of the nervous system | 0.562 | 0.2371 | -- | INHERITED FROM: Migraine || Spina bifida || Abnormality of the spinal cord |
Phenotypic Abnormality (PA) | Neural tube defect | 1 | 1.763 | -- | INHERITED FROM: Spina bifida |
Phenotypic Abnormality (PA) | Abnormality of the eye | 0 | 0.5703 | Least Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of limbs | 0.06576 | 0.6429 | Least Informative | INHERITED FROM: Long fingers || Abnormality of the hip joint || Talipes equinovarus || Talipes || Hip dislocation || Slender finger |
Phenotypic Abnormality (PA) | Abnormality of the integument | 0.1489 | 0.6235 | Least Informative | INHERITED FROM: Thin skin || Dermal atrophy || Subcutaneous nodule || Atrophic scars || Abnormally lax or hyperextensible skin || Bruising susceptibility |
Phenotypic Abnormality (PA) | Abnormality of the musculature | 0.1862 | 0.5433 | Least Informative | INHERITED FROM: Aplasia/Hypoplasia of the abdominal wall musculature || Abnormal morphology of the abdominal musculature |
Phenotypic Abnormality (PA) | Abnormality of the digestive system | 0.196 | 0.5759 | Least Informative | INHERITED FROM: Hernia of the abdominal wall || Abnormality of the abdominal wall || Abnormal morphology of the abdominal musculature || Abdominal wall defect || Inguinal hernia || Aplasia/Hypoplasia of the abdominal wall musculature |
Phenotypic Abnormality (PA) | Abnormality of the face | 0.2121 | 0.533 | Least Informative | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
Phenotypic Abnormality (PA) | Abnormality of nervous system morphology | 0.223 | 0.4756 | Least Informative | INHERITED FROM: Spina bifida || Abnormality of the spinal cord |
Phenotypic Abnormality (PA) | Abnormality of skeletal morphology | 0.2394 | 0.513 | Least Informative | INHERITED FROM: Osteoarthritis || Lower extremity joint dislocation || Enlarged thorax || Slender finger || Hip dislocation || Abnormality of pelvic girdle bone morphology || Abnormality of the hip joint || Long fingers |
Phenotypic Abnormality (PA) | Abnormality of the cardiovascular system | 0.3712 | 0.5179 | Least Informative | INHERITED FROM: Mitral valve prolapse || Abnormal venous morphology || Abnormal heart valve morphology || Thoracic aortic aneurysm || Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology || Arterial dissection || Venous insufficiency || Ascending tubular aorta aneurysm || Bruising susceptibility || Aortic aneurysm |
Phenotypic Abnormality (PA) | Abnormality of nervous system physiology | 0.4483 | 0.3869 | Least Informative | INHERITED FROM: Migraine |
Phenotypic Abnormality (PA) | Abnormality of the thorax | 0.001612 | 1.207 | Moderately Informative | INHERITED FROM: Enlarged thorax |
Phenotypic Abnormality (PA) | Abnormal joint morphology | 0.004683 | 1.101 | Moderately Informative | INHERITED FROM: Abnormality of the hip joint || Lower extremity joint dislocation || Osteoarthritis || Hip dislocation |
Phenotypic Abnormality (PA) | Abnormal respiratory system morphology | 0.006319 | 1.064 | Moderately Informative | INHERITED FROM: Pneumothorax |
Phenotypic Abnormality (PA) | Abnormal vascular morphology | 0.0104 | 1.207 | Moderately Informative | INHERITED FROM: Thoracic aortic aneurysm || Arterial dissection || Ascending tubular aorta aneurysm || Aortic aneurysm || Venous insufficiency || Abnormal venous morphology |
Phenotypic Abnormality (PA) | Abnormality of the ear | 0.01137 | 0.9572 | Moderately Informative | INHERITED FROM: Abnormality of the outer ear |
Phenotypic Abnormality (PA) | Abnormality of connective tissue | 0.01385 | 1.031 | Moderately Informative | INHERITED FROM: Atrophic scars || Inguinal hernia || Hernia of the abdominal wall || Genital hernia || Hernia |
Phenotypic Abnormality (PA) | Abnormality of limb bone morphology | 0.01625 | 0.9572 | Moderately Informative | INHERITED FROM: Long fingers || Slender finger |
Phenotypic Abnormality (PA) | Abnormality of skeletal physiology | 0.01693 | 1.101 | Moderately Informative | INHERITED FROM: Joint hyperflexibility |
Phenotypic Abnormality (PA) | Localized skin lesion | 0.01737 | 1.161 | Moderately Informative | INHERITED FROM: Atrophic scars || Dermal atrophy || Thin skin || Subcutaneous nodule |
Phenotypic Abnormality (PA) | Abnormality of the lower limb | 0.01924 | 0.9309 | Moderately Informative | INHERITED FROM: Abnormality of the hip joint || Hip dislocation || Talipes || Talipes equinovarus |
Phenotypic Abnormality (PA) | Abnormal anterior eye segment morphology | 0.04402 | 1.12 | Moderately Informative | INHERITED FROM: Ectopia lentis || Decreased corneal thickness |
Phenotypic Abnormality (PA) | Abnormal heart morphology | 0.04731 | 0.9183 | Moderately Informative | INHERITED FROM: Abnormal atrioventricular valve morphology || Abnormal mitral valve morphology || Mitral valve prolapse || Abnormal heart valve morphology |
Phenotypic Abnormality (PA) | Abnormality of the hand | 0.05685 | 1.031 | Moderately Informative | INHERITED FROM: Long fingers || Slender finger |
Phenotypic Abnormality (PA) | Abnormal skeletal muscle morphology | 0.2052 | 0.9061 | Moderately Informative | INHERITED FROM: Aplasia/Hypoplasia of the abdominal wall musculature || Abnormal morphology of the abdominal musculature |
Phenotypic Abnormality (PA) | Abnormality of blood and blood-forming tissues | 0.2081 | 0.9183 | Moderately Informative | INHERITED FROM: Bruising susceptibility |
Phenotypic Abnormality (PA) | Abnormal eye physiology | 0.3417 | 0.7903 | Moderately Informative | INHERITED FROM: Abnormality of refraction || Glaucoma |
Phenotypic Abnormality (PA) | Abnormal oral cavity morphology | 1 | 0.8289 | Moderately Informative | INHERITED FROM: Abnormality of the gingiva || Microdontia || High, narrow palate |
Phenotypic Abnormality (PA) | Hernia | 0.00009274 | 1.617 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormal heart valve morphology | 0.0001978 | 1.421 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the outer ear | 0.0002022 | 1.617 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the hip joint | 0.0002026 | 1.508 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormality of the gingiva | 0.0008993 | 1.617 | Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormal morphology of the great vessels | 0.002008 | 1.617 | Informative | INHERITED FROM: Ascending tubular aorta aneurysm || Thoracic aortic aneurysm || Aortic aneurysm |
Phenotypic Abnormality (PA) | Abnormal palate morphology | 0.003287 | 1.348 | Informative | INHERITED FROM: High, narrow palate |
Phenotypic Abnormality (PA) | Joint hypermobility | 0.01058 | 1.508 | Informative | INHERITED FROM: Joint hyperflexibility |
Phenotypic Abnormality (PA) | Joint dislocation | 0.02668 | 1.508 | Informative | INHERITED FROM: Hip dislocation || Lower extremity joint dislocation |
Phenotypic Abnormality (PA) | Vascular skin abnormality | 0.02776 | 1.462 | Informative | INHERITED FROM: Bruising susceptibility |
Phenotypic Abnormality (PA) | Abnormal fundus morphology | 0.03664 | 1.421 | Informative | INHERITED FROM: Retinal detachment |
Phenotypic Abnormality (PA) | Abnormality of the dentition | 0.07144 | 1.421 | Informative | INHERITED FROM: Microdontia |
Phenotypic Abnormality (PA) | Abnormal cornea morphology | 0.0848 | 1.383 | Informative | INHERITED FROM: Decreased corneal thickness |
Phenotypic Abnormality (PA) | Abnormality of the lens | 0.1383 | 1.559 | Informative | INHERITED FROM: Ectopia lentis |
Phenotypic Abnormality (PA) | Abnormal systemic arterial morphology | 0.2166 | 1.421 | Informative | INHERITED FROM: Thoracic aortic aneurysm || Arterial dissection || Ascending tubular aorta aneurysm || Aortic aneurysm |
Phenotypic Abnormality (PA) | Mitral valve prolapse | 0.00000117 | 2.161 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Aplasia/Hypoplasia of the abdominal wall musculature | 0.000006138 | 2.161 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Ectopia lentis | 0.00001715 | 1.985 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Hernia of the abdominal wall | 0.00004096 | 1.86 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Subcutaneous nodule | 0.000149 | 1.985 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Aortic aneurysm | 0.0001805 | 1.86 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Talipes equinovarus | 0.0002176 | 1.985 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Abnormally lax or hyperextensible skin | 0.0002566 | 2.161 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Bruising susceptibility | 0.0004236 | 2.161 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Migraine | 0.0005243 | 1.985 | Highly Informative | DIRECT |
Phenotypic Abnormality (PA) | Atypical scarring of skin | 0.004539 | 2.161 | Highly Informative | INHERITED FROM: Atrophic scars |
Phenotypic Abnormality (PA) | Arthritis | 0.005471 | 2.161 | Highly Informative | INHERITED FROM: Osteoarthritis |
Phenotypic Abnormality (PA) | Aplasia/Hypoplasia of the skin | 0.01271 | 1.86 | Highly Informative | INHERITED FROM: Atrophic scars || Thin skin || Dermal atrophy |
Phenotypic Abnormality (PA) | Abnormality of the rib cage | 0.03468 | 1.985 | Highly Informative | INHERITED FROM: Enlarged thorax |
Phenotypic Abnormality (PA) | High palate | 0.4735 | 1.985 | Highly Informative | INHERITED FROM: High, narrow palate |