| HPO |
HP:0002996 |
Limited elbow movement |
— |
— |
HP:0001376, HP:0009811 |
| HPO |
HP:0002997 |
Abnormality of the ulna |
"An abnormality of the ulna bone of the forearm." [HPO:probinson] |
— |
HP:0040072 |
| HPO |
HP:0002999 |
Patellar dislocation |
"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson] |
— |
HP:0003045, HP:0030311 |
| HPO |
HP:0003001 |
Glomus jugular tumor |
— |
— |
HP:0002864 |
| HPO |
HP:0003002 |
Breast carcinoma |
"The presence of a carcinoma of the breast." [HPO:probinson] |
— |
HP:0100013 |
| HPO |
HP:0003003 |
Colon cancer |
— |
— |
HP:0100273 |
| HPO |
HP:0003005 |
Ganglioneuroma |
"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [HPO:probinson] |
Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. |
HP:0030450 |
| HPO |
HP:0003006 |
Neuroblastoma |
"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:probinson] |
— |
HP:0004376, HP:0030067 |
| HPO |
HP:0003009 |
Enhanced neurotoxicity of vincristine |
— |
— |
HP:0000759 |
| HPO |
HP:0003010 |
Prolonged bleeding time |
"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [DDD:mumford] |
The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. |
HP:0001892 |
| HPO |
HP:0003011 |
Abnormality of the musculature |
"Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [HPO:probinson] |
— |
HP:0033127 |
| HPO |
HP:0003013 |
Bulging epiphyses |
"A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson] |
— |
HP:0010580 |
| HPO |
HP:0003015 |
Flared metaphysis |
"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [HPO:probinson, PMID:12853662] |
Figure 11 of PMID:12853662 shows metaphyseal flaring. |
HP:0003016 |
| HPO |
HP:0003016 |
Metaphyseal widening |
"Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson] |
— |
HP:0000944 |
| HPO |
HP:0003019 |
Abnormality of the wrist |
"Abnormality of the wrist, the structure connecting the hand and the forearm." [HPO:probinson] |
— |
HP:0009810 |
| HPO |
HP:0003020 |
Enlargement of the wrists |
— |
— |
HP:0003019 |
| HPO |
HP:0003021 |
Metaphyseal cupping |
"Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:probinson] |
— |
HP:0000944 |
| HPO |
HP:0003022 |
Hypoplasia of the ulna |
"Underdevelopment of the ulna." [HPO:curators] |
— |
HP:0006495, HP:0009821, HP:0040071 |
| HPO |
HP:0003023 |
Bowing of limbs due to multiple fractures |
"Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] |
— |
HP:0002659 |
| HPO |
HP:0003025 |
Metaphyseal irregularity |
"Irregularity of the normally smooth surface of the metaphyses." [HPO:probinson] |
— |
HP:0000944 |
| HPO |
HP:0003026 |
Short long bone |
"One or more abnormally short long bone." [HPO:probinson] |
Long bones are also known as tubular bones. |
HP:0011314 |
| HPO |
HP:0003027 |
Mesomelia |
"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] |
Shortening of the limbs where the predominant shortness is in the middle bones. |
HP:0009826 |
| HPO |
HP:0003028 |
Abnormality of the ankles |
— |
— |
HP:0100491 |
| HPO |
HP:0003029 |
Enlargement of the ankles |
— |
— |
HP:0003028 |
| HPO |
HP:0003031 |
Ulnar bowing |
"Bending of the diaphysis (shaft) of the ulna." [HPO:probinson] |
Ulnar bowing is usually in the convex posterior direction. |
HP:0002997, HP:0003956 |