| HPO |
HP:0003075 |
Hypoproteinemia |
"A decreased concentration of protein in the blood." [HPO:gcarletti] |
— |
HP:0010876 |
| HPO |
HP:0003076 |
Glycosuria |
"An increased concentration of glucose in the urine." [HPO:gcarletti] |
Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. |
HP:0033354 |
| HPO |
HP:0003077 |
Hyperlipidemia |
"An elevated lipid concentration in the blood." [HPO:probinson] |
Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). |
HP:0003119 |
| HPO |
HP:0003079 |
Defective DNA repair after ultraviolet radiation damage |
— |
— |
HP:0003254 |
| HPO |
HP:0003080 |
Hydroxyprolinuria |
"An increased concentration of 4-hydroxy-L-proline in the urine." [HPO:gcarletti] |
— |
HP:0033098 |
| HPO |
HP:0003081 |
Increased urinary potassium |
"An increased concentration of potassium(1+) in the urine." [HPO:probinson] |
— |
HP:0012598 |
| HPO |
HP:0003083 |
Dislocated radial head |
"A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
— |
HP:0003042, HP:0003995, HP:0100744 |
| HPO |
HP:0003084 |
Fractures of the long bones |
"An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna)." [HPO:curators] |
— |
HP:0002757, HP:0011314, HP:0020110 |
| HPO |
HP:0003085 |
Long fibula |
"Disproportionately long fibulae." [HPO:probinson] |
— |
HP:0002991 |
| HPO |
HP:0003086 |
Acromesomelia |
"Small hands and feet." [HPO:probinson, PMID:22286749] |
— |
HP:0003027 |
| HPO |
HP:0003088 |
Premature osteoarthritis |
— |
— |
HP:0002758 |
| HPO |
HP:0003089 |
Hamstring contractures |
— |
— |
HP:0005750 |
| HPO |
HP:0003090 |
Hypoplasia of the capital femoral epiphysis |
"Underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] |
— |
HP:0005003 |
| HPO |
HP:0003091 |
Trophic limb changes |
"Trophic changes occurring in a limb." [HPO:probinson] |
— |
HP:0010834 |
| HPO |
HP:0003093 |
Limited hip extension |
"Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [HPO:probinson] |
Reduced ability to straighten out the femur. |
HP:0008800 |
| HPO |
HP:0003095 |
Septic arthritis |
— |
— |
HP:0001369 |
| HPO |
HP:0003097 |
Short femur |
"An abnormal shortening of the femur." [HPO:probinson] |
— |
HP:0003026, HP:0005613 |
| HPO |
HP:0003099 |
Fibular overgrowth |
"Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, PMID:17259417] |
— |
HP:0002991 |
| HPO |
HP:0003100 |
Slender long bone |
"Reduced diameter of a long bone." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0003102 |
Increased carrying angle |
"An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [HPO:probinson, PMID:18506557] |
Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. |
HP:0009811 |
| HPO |
HP:0003103 |
Abnormal cortical bone morphology |
"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [HPO:sdoelken] |
— |
HP:0003330 |
| HPO |
HP:0003105 |
Protuberances at ends of long bones |
"The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0003106 |
Subperiosteal bone resorption |
"Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone." [PMID:24849102] |
— |
HP:0002813 |
| HPO |
HP:0003107 |
Abnormal circulating cholesterol concentration |
"Any deviation from the normal concentration of cholesterol in the blood circulation." [] |
— |
HP:0003119 |
| HPO |
HP:0003108 |
Hyperglycinuria |
"An increased concentration of glycine in the urine." [HPO:gcarletti, PMID:18901181, PMID:20240447] |
Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. |
HP:0033099 |