| HPO |
HP:0003034 |
Diaphyseal sclerosis |
"An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] |
— |
HP:0000940, HP:0006392 |
| HPO |
HP:0003037 |
Enlarged joints |
"Increase in size of one or more joints." [HPO:probinson] |
— |
HP:0001367 |
| HPO |
HP:0003038 |
Fibular hypoplasia |
"Underdevelopment of the fibula." [HPO:probinson] |
— |
HP:0003026, HP:0006492 |
| HPO |
HP:0003040 |
Arthropathy |
— |
— |
HP:0001367 |
| HPO |
HP:0003041 |
Humeroradial synostosis |
"An abnormal osseous union (fusion) between the radius and the humerus." [HPO:sdoelken] |
— |
HP:0002818, HP:0003063, HP:0003938, HP:0100744 |
| HPO |
HP:0003042 |
Elbow dislocation |
"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [HPO:probinson] |
— |
HP:0009811, HP:0030310 |
| HPO |
HP:0003043 |
Abnormal shoulder morphology |
"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:probinson] |
— |
HP:0000765, HP:0011844 |
| HPO |
HP:0003044 |
Shoulder flexion contracture |
"Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] |
— |
HP:0003043, HP:0100360 |
| HPO |
HP:0003045 |
Abnormal patella morphology |
"Abnormality of the patella (knee cap)." [HPO:probinson] |
— |
HP:0002815 |
| HPO |
HP:0003048 |
Radial head subluxation |
"Partial dislocation of the head of the radius." [HPO:curators] |
— |
HP:0032153 |
| HPO |
HP:0003049 |
Ulnar deviation of the wrist |
— |
— |
HP:0003019 |
| HPO |
HP:0003051 |
Enlarged metaphyses |
"Abnormal increase in size of one or more metaphyses." [HPO:probinson] |
— |
HP:0000944 |
| HPO |
HP:0003053 |
Epiphyseal deformities of tubular bones |
— |
— |
HP:0005930 |
| HPO |
HP:0003057 |
Tetraamelia |
"Amelia of all four limbs." [HPO:sdoelken] |
— |
HP:0009827 |
| HPO |
HP:0003059 |
Abnormality of the radioulnar joints |
— |
— |
HP:0002973, HP:0005262 |
| HPO |
HP:0003063 |
Abnormality of the humerus |
"An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] |
— |
HP:0001454, HP:0040070 |
| HPO |
HP:0003065 |
Patellar hypoplasia |
"Underdevelopment of the patella." [HPO:curators] |
— |
HP:0006498 |
| HPO |
HP:0003066 |
Limited knee extension |
"Reduced ability to extend (straighten) the knee joint." [] |
— |
HP:0010501 |
| HPO |
HP:0003067 |
Madelung deformity |
"An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [HPO:probinson, PMID:12362035] |
— |
HP:0003019 |
| HPO |
HP:0003068 |
Madelung-like forearm deformities |
— |
— |
HP:0002818 |
| HPO |
HP:0003070 |
Elbow ankylosis |
— |
— |
HP:0009811, HP:0031013 |
| HPO |
HP:0003071 |
Flattened epiphysis |
"Abnormal flatness (decreased height) of epiphyses." [HPO:probinson] |
— |
HP:0005930 |
| HPO |
HP:0003072 |
Hypercalcemia |
"An abnormally increased calcium concentration in the blood." [HPO:curators] |
— |
HP:0004363 |
| HPO |
HP:0003073 |
Hypoalbuminemia |
"Reduction in the concentration of albumin in the blood." [HPO:probinson] |
— |
HP:0012116 |
| HPO |
HP:0003074 |
Hyperglycemia |
"An increased concentration of glucose in the blood." [HPO:probinson] |
— |
HP:0011015 |