| HPO |
HP:0005612 |
Arthrogryposis-like hand anomaly |
— |
— |
HP:0005684 |
| HPO |
HP:0005613 |
Aplasia/hypoplasia of the femur |
"Absence or underdevelopment of the femur." [HPO:probinson] |
— |
HP:0002823, HP:0006493 |
| HPO |
HP:0005616 |
Accelerated skeletal maturation |
"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0005617 |
Bilateral camptodactyly |
— |
— |
HP:0100490 |
| HPO |
HP:0005619 |
Thoracolumbar kyphosis |
"Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [HPO:probinson] |
— |
HP:0002942, HP:0100712 |
| HPO |
HP:0005620 |
Hypermobility of interphalangeal joints |
"The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators] |
— |
HP:0001382 |
| HPO |
HP:0005621 |
Trapezoidal shaped vertebral bodies |
— |
— |
HP:0003312 |
| HPO |
HP:0005622 |
Broad long bones |
"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [HPO:probinson] |
— |
HP:0011314 |
| HPO |
HP:0005623 |
Absent ossification of calvaria |
"Absent ossification of the calvaria (vault of the skull)." [HPO:probinson] |
— |
HP:0005474 |
| HPO |
HP:0005625 |
Osteoporosis of vertebrae |
"Osteoporosis affecting predominantly the vertebrae." [HPO:curators] |
— |
HP:0003468, HP:0040161 |
| HPO |
HP:0005626 |
Posterior fusion of lumbosacral vertebrae |
"Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [PMID:5443339] |
— |
HP:0002948 |
| HPO |
HP:0005627 |
Type D brachydactyly |
"This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [HPO:probinson] |
— |
HP:0001156 |
| HPO |
HP:0005632 |
Absent forearm |
— |
— |
HP:0002973 |
| HPO |
HP:0005638 |
Decreased anterioposterior diameter of lumbar vertebral bodies |
— |
— |
HP:0008473 |
| HPO |
HP:0005639 |
Hyperextensible hand joints |
"The ability of the joints of the hand to move beyond their normal range of motion." [HPO:curators] |
— |
HP:0001382 |
| HPO |
HP:0005640 |
Abnormal vertebral segmentation and fusion |
— |
— |
HP:0002948 |
| HPO |
HP:0005643 |
Short 3rd toe |
"Underdevelopment (hypoplasia) of the third toe." [HPO:probinson] |
— |
HP:0001831 |
| HPO |
HP:0005645 |
Intervertebral disk calcification |
"The presence of abnormal calcium deposition of the intervertebral disk." [HPO:probinson] |
— |
HP:0005108, HP:0010766 |
| HPO |
HP:0005648 |
Bilateral ulnar hypoplasia |
"Underdevelopment of the ulna on both sides." [HPO:probinson] |
May be a symmetric finding. |
HP:0003022 |
| HPO |
HP:0005650 |
Cutaneous syndactyly between fingers 2 and 5 |
"A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [HPO:probinson] |
— |
HP:0010554 |
| HPO |
HP:0005652 |
Cortical sclerosis |
"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:probinson] |
— |
HP:0003103, HP:0011001 |
| HPO |
HP:0005653 |
Moderate generalized osteoporosis |
"Moderate osteoporosis." [HPO:curators] |
— |
HP:0040160 |
| HPO |
HP:0005655 |
Multiple digital exostoses |
"Multiple exostoses originating in the fingers and toes." [HPO:probinson] |
This feature is characteristic of metachondromatosis (MIM:156250). |
HP:0002762 |
| HPO |
HP:0005656 |
Positional foot deformity |
"A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [HPO:probinson] |
— |
HP:0001760 |
| HPO |
HP:0005659 |
Thoracic kyphoscoliosis |
— |
— |
HP:0002943 |