| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.9%) |
22935657 |
A case of osteosarcoma in a patient with pycnodysostosis. Cortisse N, Forget P, Dresse MF, Florkin B, Mascard E, Guinebretiere JM, Brugieres L, Hoyoux C. J Pediatr Hematol Oncol. 2012;34(7):545-7. |
| Prominent nose Irregular dentition Small hand | ||
| Adult Femoral Neoplasms Homo sapiens Male Osteosarcoma Pycnodysostosis | ||
| 2 (49.0%) |
11102924 |
Variable presentation of Rothmund-Thomson syndrome. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Am J Med Genet. 2000;95(3):204-7. |
| Decreased response to growth hormone stimuation test Absent thumb | ||
| HFM1 | ||
| Child Erythema Follow-Up Studies Homo sapiens Infant, Newborn Male Neoplasms, Second Primary Osteosarcoma Skin Diseases, Genetic | ||
| 2 (49.0%) |
10695826 |
Osteosarcoma associated with absent thumbs: a report of two cases. Orme L, Gorlick R, Meyers PA, Athanasian E, Huvos AG. J Pediatr Hematol Oncol. 2000;22(1):73-7. |
| Pathologic fracture Absent thumb | ||
| Child Congenital Hand Deformities Females Homo sapiens Male Osteosarcoma | ||
| 4 (42.7%) |
29866691 |
Atypical mandibular metastasis as the first presentation of a colorectal cancer. Salvador JC, Rosa D, Rito M, Borges A. BMJ Case Rep. 2018;2018:. |
| Trismus | ||
| Biopsy Colorectal Neoplasms Homo sapiens Male Mandibular Neoplasms Mucinous Adenocarcinoma Rectal Neoplasms X-Ray Computed Tomography | ||
| 4 (42.7%) |
27257565 (4874279) |
Bilateral Distraction Osteogenesis of Vascularized Iliac Crest Free Flaps Used in Mandibular Reconstruction. Bobinskas AM, Subramaniam SS, Vujcich NJ, Nastri AL. Plast Reconstr Surg Glob Open. 2016;4(3):e635. |
| Retrognathia | ||
| 6 (42.7%) |
27561385 |
Giant cell-rich osteosarcoma of the parotid gland: An exceptionally rare entity at an unusual site. Huang EC, Ghazikhanian V, Qian X. Diagn Cytopathol. 2016;44(12):1107-1111. |
| Jaw swelling | ||
| Giant Cells Homo sapiens Male Middle Aged Osteosarcoma Parotid Neoplasms Rare Diseases Stromal Cells | ||
| 7 (42.2%) |
25997077 |
Two-Piece Hollow Bulb Obturator for Postsurgical Partial Maxillectomy Defect in a Young Patient Revamping Lost Malar Prominence: A Clinical Report. Vaidya S, Parkash H, Gupta S, Bhargava A, Kapoor C. J Prosthodont. 2016;25(1):71-6. |
| Malar prominence | ||
| Bone Transplantation Homo sapiens Maxilla Mouth Neoplasms Osteosarcoma Palatal Obturators Reconstructive Surgical Procedures Surgical Flaps Young Adult | ||
| 8 (40.9%) |
9495157 |
Maxillary metastasis of osteosarcoma. Dayal PK, Patil S, Suvarna P, Srinivasan SV. Indian J Dent Res. 1997;8(3):86-9. |
| Sinusitis | ||
| Adult Femoral Neoplasms Homo sapiens Male Maxilla Maxillary Neoplasms Osteosarcoma Panoramic Radiography | ||
| 9 (40.9%) |
8677902 |
Sweet syndrome in a patient with osteosarcoma. Sandlund JT, Miser JS, Miser AW. Am J Clin Oncol. 1996;19(4):349-50. |
| Conjunctivitis Arthritis | ||
| Adult Antineoplastic Combined Chemotherapy Protocols Females Homo sapiens Lung Neoplasms Neoplasm Recurrence, Local Osteosarcoma Sweet Syndrome | ||
| 10 (39.7%) |
201363 |
Multiple childhood osteosarcomas in an American Indian family with erythroid macrocytosis and skeletal anomalies. Mulvihill JJ, Gralnick HR, Whang-Peng J, Leventhal BG. Cancer. 1977;40(6):3115-22. |
| Anemia Radioulnar synostosis | ||
| Adult Antibodies, Viral Bone and Bones Child Chromosome Aberrations Females Homo sapiens Indians, North American Male Megaloblasts Middle Aged Osteosarcoma Syndrome Wisconsin |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002797 | Osteolysis | Very frequent (99-80%) |
| HP:0006489 | Abnormality of the femoral metaphysis | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0001386 | Joint swelling | Frequent (79-30%) |
| HP:0003155 | Elevated alkaline phosphatase | Frequent (79-30%) |
| HP:0006491 | Abnormality of the tibial metaphysis | Frequent (79-30%) |
| HP:0012531 | Pain | Frequent (79-30%) |
| HP:0025435 | Increased lactate dehydrogenase activity | Frequent (79-30%) |
| HP:0045040 | Abnormal lactate dehydrogenase activity | Frequent (79-30%) |
| HP:0001824 | Weight loss | Very rare (4-1%) |
| HP:0001945 | Fever | Very rare (4-1%) |
| HP:0002756 | Pathologic fracture | Very rare (4-1%) |
Total: 259
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100242 | Sarcoma | 187 |
| HP:0002664 | Neoplasm | 121 |
| HP:0030731 | Carcinoma | 100 |
| HP:0012315 | Histiocytoma | 54 |
| HP:0100614 | Myositis | 35 |
| HP:0002860 | Squamous cell carcinoma | 32 |
| HP:0030431 | Osteochondroma | 30 |
| HP:0001909 | Leukemia | 22 |
| HP:0002861 | Melanoma | 22 |
| HP:0002754 | Osteomyelitis | 20 |
| HP:0030426 | Ossifying fibroma | 19 |
| HP:0030432 | Chondroblastoma | 15 |
| HP:0012062 | Bone cyst | 13 |
| HP:0003002 | Breast carcinoma | 12 |
| HP:0009792 | Teratoma | 12 |
| HP:0040165 | Periostitis | 12 |
| HP:0100246 | Osteoma | 12 |
| HP:0010614 | Fibroma | 11 |
| HP:0002835 | Aspiration | 10 |
| HP:0002108 | Spontaneous pneumothorax | 9 |
| HP:0030433 | Osteoid osteoma | 9 |
| HP:0032252 | Granuloma | 9 |
| HP:0000843 | Hyperparathyroidism | 8 |
| HP:0002202 | Pleural effusion | 8 |
| HP:0012125 | Prostate cancer | 8 |
| HP:0000790 | Hematuria | 7 |
| HP:0002671 | Basal cell carcinoma | 7 |
| HP:0002756 | Pathologic fracture | 7 |
| HP:0001635 | Congestive heart failure | 6 |
| HP:0002027 | Abdominal pain | 6 |
| HP:0002576 | Intussusception | 6 |
| HP:0012032 | Lipoma | 6 |
| HP:0001028 | Hemangioma | 5 |
| HP:0001298 | Encephalopathy | 5 |
| HP:0002094 | Dyspnea | 5 |
| HP:0002107 | Pneumothorax | 5 |
| HP:0002315 | Headache | 5 |
| HP:0030038 | Enchondroma | 5 |
| HP:0000718 | Aggressive behavior | 4 |
| HP:0001289 | Confusion | 4 |
| HP:0001482 | Subcutaneous nodule | 4 |
| HP:0001903 | Anemia | 4 |
| HP:0003761 | Calcinosis | 4 |
| HP:0025615 | Abscess | 4 |
| HP:0031864 | Bacteremia | 4 |
| HP:0000520 | Proptosis | 3 |
| HP:0000939 | Osteoporosis | 3 |
| HP:0001029 | Poikiloderma | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001269 | Hemiparesis | 3 |
| HP:0001369 | Arthritis | 3 |
| HP:0001945 | Fever | 3 |
| HP:0002204 | Pulmonary embolism | 3 |
| HP:0002625 | Deep venous thrombosis | 3 |
| HP:0002716 | Lymphadenopathy | 3 |
| HP:0002797 | Osteolysis | 3 |
| HP:0002901 | Hypocalcemia | 3 |
| HP:0012735 | Cough | 3 |
| HP:0030268 | Hyperplastic callus formation | 3 |
| HP:0030692 | Brain neoplasm | 3 |
| HP:0030839 | Knee pain | 3 |
| HP:0031459 | Soft tissue neoplasm | 3 |
| HP:0031500 | Abdominal mass | 3 |
| HP:0031625 | Pseudoaneurysm | 3 |
| HP:0031925 | Rosette | 3 |
| HP:0000015 | Bladder diverticulum | 2 |
| HP:0000135 | Hypogonadism | 2 |
| HP:0000518 | Cataract | 2 |
| HP:0000618 | Blindness | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0000854 | Thyroid adenoma | 2 |
| HP:0000961 | Cyanosis | 2 |
| HP:0000969 | Edema | 2 |
| HP:0001118 | Juvenile cataract | 2 |
| HP:0001733 | Pancreatitis | 2 |
| HP:0001824 | Weight loss | 2 |
| HP:0001875 | Neutropenia | 2 |
| HP:0002013 | Vomiting | 2 |
| HP:0002090 | Pneumonia | 2 |
| HP:0002381 | Aphasia | 2 |
| HP:0002385 | Paraparesis | 2 |
| HP:0002758 | Osteoarthritis | 2 |
| HP:0003401 | Paresthesia | 2 |
| HP:0003419 | Low back pain | 2 |
| HP:0004936 | Venous thrombosis | 2 |
| HP:0005214 | Intestinal obstruction | 2 |
| HP:0006689 | Bacterial endocarditis | 2 |
| HP:0008070 | Sparse hair | 2 |
| HP:0008200 | Primary hyperparathyroidism | 2 |
| HP:0009730 | Rhabdomyoma | 2 |
| HP:0009777 | Absent thumb | 2 |
| HP:0010550 | Paraplegia | 2 |
| HP:0010566 | Hamartoma | 2 |
| HP:0011458 | Abdominal symptom | 2 |
| HP:0011868 | Sciatica | 2 |
| HP:0012151 | Hemothorax | 2 |
| HP:0012378 | Fatigue | 2 |
| HP:0020110 | Bone fracture | 2 |
| HP:0025247 | Dermoid cyst | 2 |
| HP:0030065 | Primitive neuroectodermal tumor | 2 |
| HP:0030078 | Lung adenocarcinoma | 2 |
| HP:0030157 | Flank pain | 2 |
| HP:0030834 | Shoulder pain | 2 |
| HP:0031501 | Pelvic mass | 2 |
| HP:0100001 | Malignant mesothelioma | 2 |
| HP:0100008 | Schwannoma | 2 |
| HP:0100518 | Dysuria | 2 |
| HP:0100584 | Endocarditis | 2 |
| HP:0100749 | Chest pain | 2 |
| HP:0100774 | Hyperostosis | 2 |
| HP:0000083 | Renal insufficiency | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000103 | Polyuria | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000131 | Uterine leiomyoma | 1 |
| HP:0000133 | Gonadal dysgenesis | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000421 | Epistaxis | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000523 | Subcapsular cataract | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000651 | Diplopia | 1 |
| HP:0000667 | Phthisis bulbi | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000699 | Diastema | 1 |
| HP:0000742 | Self-mutilation | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000831 | Insulin-resistant diabetes mellitus | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000957 | Cafe-au-lait spot | 1 |
| HP:0000989 | Pruritus | 1 |
| HP:0001009 | Telangiectasia | 1 |
| HP:0001025 | Urticaria | 1 |
| HP:0001082 | Cholecystitis | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001279 | Syncope | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001695 | Cardiac arrest | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001708 | Right ventricular failure | 1 |
| HP:0001737 | Pancreatic cysts | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001882 | Leukopenia | 1 |
| HP:0001907 | Thromboembolism | 1 |
| HP:0001959 | Polydipsia | 1 |
| HP:0001962 | Palpitations | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002039 | Anorexia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002046 | Heat intolerance | 1 |
| HP:0002069 | Generalized tonic-clonic seizures | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002153 | Hyperkalemia | 1 |
| HP:0002181 | Cerebral edema | 1 |
| HP:0002239 | Gastrointestinal hemorrhage | 1 |
| HP:0002248 | Hematemesis | 1 |
| HP:0002583 | Colitis | 1 |
| HP:0002584 | Intestinal bleeding | 1 |
| HP:0002586 | Peritonitis | 1 |
| HP:0002668 | Paraganglioma | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002762 | Multiple exostoses | 1 |
| HP:0002789 | Tachypnea | 1 |
| HP:0002862 | Bladder carcinoma | 1 |
| HP:0002863 | Myelodysplasia | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0002888 | Ependymoma | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0003003 | Colon cancer | 1 |
| HP:0003072 | Hypercalcemia | 1 |
| HP:0003095 | Septic arthritis | 1 |
| HP:0003270 | Abdominal distention | 1 |
| HP:0003418 | Back pain | 1 |
| HP:0003508 | Proportionate short stature | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004755 | Supraventricular tachycardia | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0004947 | Arteriovenous fistula | 1 |
| HP:0005110 | Atrial fibrillation | 1 |
| HP:0005202 | Helicobacter pylori infection | 1 |
| HP:0005306 | Capillary hemangioma | 1 |
| HP:0005575 | Hemolytic-uremic syndrome | 1 |
| HP:0005731 | Cortical irregularity | 1 |
| HP:0006685 | Endocardial fibrosis | 1 |
| HP:0006725 | Pancreatic adenocarcinoma | 1 |
| HP:0006740 | Transitional cell carcinoma of the bladder | 1 |
| HP:0006748 | Adrenal pheochromocytoma | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0009725 | Bladder neoplasm | 1 |
| HP:0009726 | Renal neoplasm | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0009937 | Facial hirsutism | 1 |
| HP:0010302 | Spinal cord tumor | 1 |
| HP:0010516 | Thymus hyperplasia | 1 |
| HP:0010739 | Osteopoikilosis | 1 |
| HP:0010740 | Osteopathia striata | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0010799 | Pinealoma | 1 |
| HP:0010992 | Stress urinary incontinence | 1 |
| HP:0011855 | Pharyngeal edema | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0012056 | Cutaneous melanoma | 1 |
| HP:0012114 | Endometrial carcinoma | 1 |
| HP:0012126 | Stomach cancer | 1 |
| HP:0012328 | Cementoma | 1 |
| HP:0012375 | Chemosis | 1 |
| HP:0012514 | Lower limb pain | 1 |
| HP:0012532 | Chronic pain | 1 |
| HP:0012721 | Venous malformation | 1 |
| HP:0012740 | Papilloma | 1 |
| HP:0012764 | Orthopnea | 1 |
| HP:0020074 | Crystalluria | 1 |
| HP:0025127 | Actinic keratosis | 1 |
| HP:0025151 | Ganglioneuromatosis | 1 |
| HP:0025274 | Ovarian dermoid cyst | 1 |
| HP:0025318 | Ovarian carcinoma | 1 |
| HP:0025421 | Pneumomediastinum | 1 |
| HP:0030049 | Brain abscess | 1 |
| HP:0030074 | Chemodectoma | 1 |
| HP:0030075 | Ductal carcinoma in situ | 1 |
| HP:0030207 | Paradoxical respiration | 1 |
| HP:0030357 | Small cell lung carcinoma | 1 |
| HP:0030413 | Squamous cell carcinoma of the tongue | 1 |
| HP:0030516 | Homonymous hemianopia | 1 |
| HP:0030757 | Tooth abscess | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0031035 | Chronic infection | 1 |
| HP:0031041 | Obstruction of the superior vena cava | 1 |
| HP:0031164 | Growth arrest lines | 1 |
| HP:0031258 | Delirium | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031492 | Epithelial neoplasm | 1 |
| HP:0031495 | Mucinous neoplasm | 1 |
| HP:0031520 | Groin pain | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0100279 | Ulcerative colitis | 1 |
| HP:0100537 | Fasciitis | 1 |
| HP:0100570 | Carcinoid tumor | 1 |
| HP:0100598 | Pulmonary edema | 1 |
| HP:0100658 | Cellulitis | 1 |
| HP:0100665 | Angioedema | 1 |
| HP:0100721 | Mediastinal lymphadenopathy | 1 |
| HP:0100727 | Histiocytosis | 1 |
| HP:0100768 | Choriocarcinoma | 1 |
| HP:0100769 | Synovitis | 1 |
| HP:0100777 | Exostoses | 1 |
| HP:0100806 | Sepsis | 1 |
| HP:0200040 | Epidermoid cyst | 1 |