| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (54.2%) |
28851321 (5575842) |
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. Abdessayed N, Gupta R, Mestiri S, Bdioui A, Trimech M, Mokni M. BMC Cancer. 2017;17(1):579. |
| Jaundice Iron deficiency anemia Conjugated hyperbilirubinemia | ||
| Ampulla of Vater Biopsy Carcinoid Tumor Duodenal Neoplasms Females Gastrointestinal Stromal Tumors Homo sapiens Neurofibromatosis 1 Pancreaticoduodenectomy Plexiform Neurofibroma X-Ray Computed Tomography | ||
| 2 (48.0%) |
20300877 |
Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. Relles D, Baek J, Witkiewicz A, Yeo CJ. J Gastrointest Surg. 2010;14(6):1052-61. |
| Jaundice Anemia | ||
| NF1 | ||
| Adult Ampulla of Vater Common Bile Duct Neoplasms Duodenal Neoplasms Females Homo sapiens Male Middle Aged Neurofibromatosis 1 | ||
| 3 (45.4%) |
24200148 (3879218) |
Spontaneous rupture of a dissecting aneurysm in the superior rectal artery of a patient with neurofibromatosis type 1: a case report. Makino K, Kurita N, Kanai M, Kirita M. J Med Case Rep. 2013;7:249. |
| Neurofibromas Ascites Anemia | ||
| NF1 | ||
| 4 (41.0%) |
30774551 |
Can we differentiate malignant peripheral nerve sheath tumor from benign neurofibroma without invasive sampling. Simsek FS, Akarsu S, Narin Y. World J Nucl Med. 2019;18(1):66-68. |
| Fever Leukocytosis Lymphadenopathy Hepatitis | ||
| NF1 | ||
| 5 (39.1%) |
22736231 |
Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia. Sano H, Kobayashi R, Suzuki D, Yasuda K, Nakanishi M, Nagashima T, Yamada M, Kobayashi K. Int J Hematol. 2012;96(2):279-83. |
| Eczema Splenomegaly Thrombocytopenia | ||
| CBL CSF2 NF1 PTPN11 WAS | ||
| Base Sequence Biopsy Bone Marrow Bone Marrow Transplantation Differential Diagnosis Genotype Homo sapiens Infant, Newborn Juvenile Myelomonocytic Leukemia Male Mutation Transplantation, Homologous Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome Protein | ||
| 6 (37.5%) |
20941477 |
[69 year-old patient with chronic abdominal pain and anemia in neurofibromatosis]. Schulz M, Schreyer A, Glockner SC, Scholmerich J, Zuber-Jerger I. Internist (Berl). 2011;52(1):81-2, 84-6, 88. |
| Iron deficiency anemia Abdominal pain | ||
| NF1 | ||
| Abdominal Pain Anemia Differential Diagnosis Homo sapiens Intestinal Neoplasms Male Neurofibromatosis 1 | ||
| 6 (37.5%) |
17332842 |
Multiple gastrointestinal stromal tumors in neurofibromatosis type 1 treated with laparoscopic surgery. Tsukuda K, Ikeda E, Takagi S, Miyake T, Muraoka T, Watanabe K, Hirai R, Moriyama S, Nawa S, Kunitomo T, Tsuji H. Acta Med Okayama. 2007;61(1):47-50. |
| Anemia Melena | ||
| NF1 | ||
| Digestive System Surgical Procedures Females Gastrointestinal Stromal Tumors Homo sapiens Ileal Neoplasms Incidental Findings Laparoscopy Neurofibromatosis 1 Radiography, Abdominal X-Ray Computed Tomography | ||
| 8 (35.3%) |
27980226 (5503644) |
Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia. Banerjee S, Lei D, Liang S, Yang L, Liu S, Wei Z, Tang JP. Oncotarget. 2017;8(24):39695-39702. |
| Cafe-au-lait spot Iron deficiency anemia | ||
| NF1 | ||
| rs1555535032 rs864622307 | ||
| Anemia Asians Cafe-au-Lait Spots DNA Mutational Analysis Females Homo sapiens Infant Male Mutation Neurofibromatosis 1 Phenotype Pseudarthrosis | ||
| 9 (34.2%) |
29580726 |
[White hemithorax in a young women carrying coffee and milk spots]. Ben Saad S, Abdenadher M, Attia M, Daghfous H, Tritar F. Rev Pneumol Clin. 2018;74(2):100-103. |
| Neurofibromas Anemia | ||
| NF1 | ||
| Adult Cafe-au-Lait Spots Electrocoagulation Females Hemothorax Homo sapiens Neurofibromatosis 1 X-Ray Computed Tomography | ||
| 10 (33.0%) |
8992416 |
[Endocrinologic complications of neurofibromatosis type 1]. Toth M, Szucs N, Racz K, Varga I, Huttl K, Perner F, Glaz E. Orv Hetil. 1996;137(31):1683-7. |
| Hypertension Anemia Renal artery stenosis | ||
| NF1 | ||
| Adrenal Gland Neoplasms Adult Angioplasty, Balloon Chromosome Aberrations Females Genes, Dominant HELLP Syndrome Homo sapiens Middle Aged Neurofibromatosis 1 Pheochromocytoma Pre-Eclampsia Pregnancy Renal Artery Obstruction X-Ray Computed Tomography |
Total: 69
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000707 | Abnormality of the nervous system | Very frequent (99-80%) |
| HP:0000823 | Delayed puberty | Very frequent (99-80%) |
| HP:0000995 | Melanocytic nevus | Very frequent (99-80%) |
| HP:0001012 | Multiple lipomas | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001482 | Subcutaneous nodule | Very frequent (99-80%) |
| HP:0002858 | Meningioma | Very frequent (99-80%) |
| HP:0007440 | Generalized hyperpigmentation | Very frequent (99-80%) |
| HP:0007565 | Multiple cafe-au-lait spots | Very frequent (99-80%) |
| HP:0008069 | Neoplasm of the skin | Very frequent (99-80%) |
| HP:0009592 | Astrocytoma | Very frequent (99-80%) |
| HP:0009732 | Plexiform neurofibroma | Very frequent (99-80%) |
| HP:0009737 | Lisch nodules | Very frequent (99-80%) |
| HP:0012733 | Macule | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000098 | Tall stature | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0000520 | Proptosis | Frequent (79-30%) |
| HP:0001100 | Heterochromia iridis | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001480 | Freckling | Frequent (79-30%) |
| HP:0002167 | Neurological speech impairment | Frequent (79-30%) |
| HP:0002315 | Headache | Frequent (79-30%) |
| HP:0002354 | Memory impairment | Frequent (79-30%) |
| HP:0002652 | Skeletal dysplasia | Frequent (79-30%) |
| HP:0002757 | Recurrent fractures | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003100 | Slender long bone | Frequent (79-30%) |
| HP:0003401 | Paresthesia | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000492 | Abnormal eyelid morphology | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000505 | Visual impairment | Occasional (29-5%) |
| HP:0000512 | Abnormal electroretinogram | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000567 | Chorioretinal coloboma | Occasional (29-5%) |
| HP:0000818 | Abnormality of the endocrine system | Occasional (29-5%) |
| HP:0000822 | Hypertension | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (29-5%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001387 | Joint stiffness | Occasional (29-5%) |
| HP:0001909 | Leukemia | Occasional (29-5%) |
| HP:0002086 | Abnormality of the respiratory system | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002666 | Pheochromocytoma | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002970 | Genu varum | Occasional (29-5%) |
| HP:0003272 | Abnormality of the hip bone | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0005506 | Chronic myelogenous leukemia | Occasional (29-5%) |
| HP:0007378 | Neoplasm of the gastrointestinal tract | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0007957 | Corneal opacity | Occasional (29-5%) |
| HP:0009735 | Spinal neurofibromas | Occasional (29-5%) |
| HP:0010786 | Urinary tract neoplasm | Occasional (29-5%) |
| HP:0010935 | Abnormality of the upper urinary tract | Occasional (29-5%) |
| HP:0011362 | Abnormal hair quantity | Occasional (29-5%) |
| HP:0100242 | Sarcoma | Occasional (29-5%) |
| HP:0100545 | Arterial stenosis | Occasional (29-5%) |
Total: 228
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001067 | Neurofibromas | 106 |
| HP:0000957 | Cafe-au-lait spot | 45 |
| HP:0002666 | Pheochromocytoma | 31 |
| HP:0002664 | Neoplasm | 25 |
| HP:0009737 | Lisch nodules | 25 |
| HP:0000822 | Hypertension | 19 |
| HP:0002435 | Meningocele | 18 |
| HP:0012733 | Macule | 14 |
| HP:0004947 | Arteriovenous fistula | 13 |
| HP:0100008 | Schwannoma | 13 |
| HP:0001480 | Freckling | 12 |
| HP:0002027 | Abdominal pain | 10 |
| HP:0002861 | Melanoma | 9 |
| HP:0100242 | Sarcoma | 9 |
| HP:0001297 | Stroke | 8 |
| HP:0002315 | Headache | 8 |
| HP:0000997 | Axillary freckling | 7 |
| HP:0002650 | Scoliosis | 7 |
| HP:0012151 | Hemothorax | 7 |
| HP:0000238 | Hydrocephalus | 6 |
| HP:0001909 | Leukemia | 6 |
| HP:0002094 | Dyspnea | 6 |
| HP:0002668 | Paraganglioma | 6 |
| HP:0010566 | Hamartoma | 6 |
| HP:0025151 | Ganglioneuromatosis | 6 |
| HP:0031625 | Pseudoaneurysm | 6 |
| HP:0000843 | Hyperparathyroidism | 5 |
| HP:0001920 | Renal artery stenosis | 5 |
| HP:0002751 | Kyphoscoliosis | 5 |
| HP:0012735 | Cough | 5 |
| HP:0000572 | Visual loss | 4 |
| HP:0001250 | Seizures | 4 |
| HP:0001482 | Subcutaneous nodule | 4 |
| HP:0001824 | Weight loss | 4 |
| HP:0007565 | Multiple cafe-au-lait spots | 4 |
| HP:0008443 | Spinal deformities | 4 |
| HP:0100775 | Dural ectasia | 4 |
| HP:0000520 | Proptosis | 3 |
| HP:0000952 | Jaundice | 3 |
| HP:0001251 | Ataxia | 3 |
| HP:0001271 | Polyneuropathy | 3 |
| HP:0001903 | Anemia | 3 |
| HP:0001945 | Fever | 3 |
| HP:0002138 | Subarachnoid hemorrhage | 3 |
| HP:0002176 | Spinal cord compression | 3 |
| HP:0005864 | Pseudoarthrosis | 3 |
| HP:0008200 | Primary hyperparathyroidism | 3 |
| HP:0031501 | Pelvic mass | 3 |
| HP:0032252 | Granuloma | 3 |
| HP:0100026 | Arteriovenous malformation | 3 |
| HP:0100279 | Ulcerative colitis | 3 |
| HP:0100570 | Carcinoid tumor | 3 |
| HP:0100698 | Subcutaneous neurofibromas | 3 |
| HP:0000085 | Horseshoe kidney | 2 |
| HP:0000324 | Facial asymmetry | 2 |
| HP:0000508 | Ptosis | 2 |
| HP:0000939 | Osteoporosis | 2 |
| HP:0001269 | Hemiparesis | 2 |
| HP:0001324 | Muscle weakness | 2 |
| HP:0002013 | Vomiting | 2 |
| HP:0002014 | Diarrhea | 2 |
| HP:0002015 | Dysphagia | 2 |
| HP:0002039 | Anorexia | 2 |
| HP:0002170 | Intracranial hemorrhage | 2 |
| HP:0002171 | Gliosis | 2 |
| HP:0002196 | Myelopathy | 2 |
| HP:0002326 | Transient ischemic attack | 2 |
| HP:0002410 | Aqueductal stenosis | 2 |
| HP:0002588 | Duodenal ulcer | 2 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0002749 | Osteomalacia | 2 |
| HP:0002860 | Squamous cell carcinoma | 2 |
| HP:0004398 | Peptic ulcer | 2 |
| HP:0006748 | Adrenal pheochromocytoma | 2 |
| HP:0009735 | Spinal neurofibromas | 2 |
| HP:0012056 | Cutaneous melanoma | 2 |
| HP:0012089 | Arteritis | 2 |
| HP:0025615 | Abscess | 2 |
| HP:0030426 | Ossifying fibroma | 2 |
| HP:0030731 | Carcinoma | 2 |
| HP:0031273 | Shock | 2 |
| HP:0031500 | Abdominal mass | 2 |
| HP:0032408 | Breast lump | 2 |
| HP:0100749 | Chest pain | 2 |
| HP:0000097 | Focal segmental glomerulosclerosis | 1 |
| HP:0000098 | Tall stature | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000529 | Progressive visual loss | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000565 | Esotropia | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000651 | Diplopia | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000739 | Anxiety | 1 |
| HP:0000786 | Primary amenorrhea | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000823 | Delayed puberty | 1 |
| HP:0000836 | Hyperthyroidism | 1 |
| HP:0000839 | Pituitary dwarfism | 1 |
| HP:0000846 | Adrenal insufficiency | 1 |
| HP:0000872 | Hashimoto thyroiditis | 1 |
| HP:0000951 | Abnormality of the skin | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001031 | Subcutaneous lipoma | 1 |
| HP:0001045 | Vitiligo | 1 |
| HP:0001048 | Cavernous hemangioma | 1 |
| HP:0001058 | Poor wound healing | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001332 | Dystonia | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001374 | Congenital hip dislocation | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001649 | Tachycardia | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001678 | Atrioventricular block | 1 |
| HP:0001680 | Coarctation of aorta | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001891 | Iron deficiency anemia | 1 |
| HP:0001962 | Palpitations | 1 |
| HP:0002017 | Nausea and vomiting | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002024 | Malabsorption | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002156 | Homocystinuria | 1 |
| HP:0002204 | Pulmonary embolism | 1 |
| HP:0002249 | Melena | 1 |
| HP:0002273 | Tetraparesis | 1 |
| HP:0002277 | Horner syndrome | 1 |
| HP:0002290 | Poliosis | 1 |
| HP:0002321 | Vertigo | 1 |
| HP:0002385 | Paraparesis | 1 |
| HP:0002444 | Hypothalamic hamartoma | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002573 | Hematochezia | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002791 | Hypoventilation | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002827 | Hip dislocation | 1 |
| HP:0002840 | Lymphadenitis | 1 |
| HP:0002888 | Ependymoma | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0002947 | Cervical kyphosis | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0003418 | Back pain | 1 |
| HP:0003419 | Low back pain | 1 |
| HP:0003552 | Muscle stiffness | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0004099 | Macrodactyly | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004390 | Hamartomatous polyposis | 1 |
| HP:0004936 | Venous thrombosis | 1 |
| HP:0004942 | Aortic aneurysm | 1 |
| HP:0005214 | Intestinal obstruction | 1 |
| HP:0005523 | Lymphoproliferative disorder | 1 |
| HP:0005659 | Thoracic kyphoscoliosis | 1 |
| HP:0006771 | Duodenal adenocarcinoma | 1 |
| HP:0006888 | Meningoencephalocele | 1 |
| HP:0007018 | Attention deficit hyperactivity disorder | 1 |
| HP:0007293 | Anterior sacral meningocele | 1 |
| HP:0008462 | Cervical instability | 1 |
| HP:0009792 | Teratoma | 1 |
| HP:0010301 | Spinal dysraphism | 1 |
| HP:0010307 | Stridor | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0011458 | Abdominal symptom | 1 |
| HP:0011497 | Iris neovascularization | 1 |
| HP:0011781 | Thyroid C cell hyperplasia | 1 |
| HP:0012109 | Angle closure glaucoma | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012315 | Histiocytoma | 1 |
| HP:0012318 | Occipital neuralgia | 1 |
| HP:0012450 | Chronic constipation | 1 |
| HP:0012578 | Membranous nephropathy | 1 |
| HP:0012593 | Nephrotic range proteinuria | 1 |
| HP:0012819 | Myocarditis | 1 |
| HP:0020038 | Vertebrobasilar dolichoectasia | 1 |
| HP:0025143 | Chills | 1 |
| HP:0025268 | Stuttering | 1 |
| HP:0025324 | Arterial occlusion | 1 |
| HP:0025355 | Retinal arterial macroaneurysms | 1 |
| HP:0025388 | Thyroid nodule | 1 |
| HP:0030043 | Hip subluxation | 1 |
| HP:0030052 | Inguinal freckling | 1 |
| HP:0030065 | Primitive neuroectodermal tumor | 1 |
| HP:0030149 | Cardiogenic shock | 1 |
| HP:0030166 | Night sweats | 1 |
| HP:0030405 | Pancreatic endocrine tumor | 1 |
| HP:0030412 | Ileal adenocarcinoma | 1 |
| HP:0030430 | Neuroma | 1 |
| HP:0030833 | Neck pain | 1 |
| HP:0030834 | Shoulder pain | 1 |
| HP:0030837 | Finger pain | 1 |
| HP:0030882 | Coronary artery aneurysm | 1 |
| HP:0031274 | Hypovolemic shock | 1 |
| HP:0031499 | Appendiceal mucinous neoplasm | 1 |
| HP:0031649 | Aortic rupture | 1 |
| HP:0031655 | Quadricuspid aortic valve | 1 |
| HP:0031673 | Orthodromic atrioventricular reentrant tachycardia | 1 |
| HP:0031730 | Axial myopia | 1 |
| HP:0031925 | Rosette | 1 |
| HP:0031929 | Perivascular pseudorosette | 1 |
| HP:0031930 | Neurocytic rosette | 1 |
| HP:0032043 | Odynophagia | 1 |
| HP:0040049 | Macular edema | 1 |
| HP:0100543 | Cognitive impairment | 1 |
| HP:0100556 | Hemiatrophy | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100758 | Gangrene | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
| HP:0200026 | Ocular pain | 1 |
| HP:0200042 | Skin ulcer | 1 |
| HP:0410019 | Epigastric pain | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|