| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (50.2%) |
31006900 |
Langerhans cell histiocytosis and multiple reticulohistiocytomas in a patient with TAR syndrome: An association not previously described. Hipolito LN, Mendoza-Cembranos MD, Villaescusa MT, Jo-Velasco M, Requena L, Alegria-Landa V. J Cutan Pathol. 2019;:. |
| Absent radius | ||
| BRAF | ||
| p|SUB|V|600|E;RS#:113488022 | ||
| Adult Congenital Bone Marrow Failure Syndromes Females Histiocytosis, Langerhans-Cell Histiocytosis, Non-Langerhans-Cell Homo sapiens Thrombocytopenia Upper Extremity Deformities, Congenital | ||
| 1 (50.2%) |
21428712 |
Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. Giordano P, Cecinati V, Grassi M, Giordani L, De Mattia D, Santoro N. Immunopharmacol Immunotoxicol. 2011;33(4):754-8. |
| Absent radius | ||
| Alleles Bone Diseases, Developmental Child Chromosome Deletion Chromosomes, Human, Pair 1 Histiocytosis, Langerhans-Cell Homo sapiens Male Single Nucleotide Polymorphism Syndrome | ||
| 3 (42.7%) |
26243405 |
Hand-Schuler-Christian disease presenting with recurrent, bilateral, symmetrical mandibular lesions in an 8-year-old boy: report of a case. Emmanouil D, Birpou E, Chatzidimitriou K, Matsioula C, Christopoulos P, Tosios K. Spec Care Dentist. 2015;35(6):316-21. |
| Mandibular pain | ||
| Biopsy Differential Diagnosis Histiocytosis, Langerhans-Cell Homo sapiens Infant Male Mandibular Diseases Panoramic Radiography | ||
| 4 (40.9%) |
29643005 |
A case report of orbital Langerhans cell histiocytosis presenting as a orbital cellulitis. Albert-Fort M, Gonzalez-Candial M. Arch Soc Esp Oftalmol. 2018;93(10):503-506. |
| Sinusitis | ||
| Antigens, CD1 Biological Markers Child Cytoreductive Surgery Females Histiocytosis, Langerhans-Cell Homo sapiens Orbital Cellulitis Osteolysis S100 Proteins X-Ray Computed Tomography | ||
| 5 (39.0%) |
30173688 |
An Unusual Presentation of Langerhans Cell Histiocytosis. Rehman U, Ali Z, Mamoon N. J Coll Physicians Surg Pak. 2018;28(9):S172-S173. |
| Encephalocele | ||
| Child Cytodiagnosis Histiocytosis, Langerhans-Cell Homo sapiens Male | ||
| 5 (39.0%) |
25139821 |
A rare disorder mimics otitis media: Langerhans cell histiocytosis of the temporal bone in a child with interstitial pulmonary fibrosis. Xie SM, Liu W, Xiang YY, Xiao ZA, Ren HM, Peng AQ, Wu WJ, Yang XM, Xie DH, Yin TF, Ren JH. Am J Otolaryngol. 2014;35(6):816-21. |
| Mastoiditis | ||
| Child, Preschool Combination Drug Therapy Differential Diagnosis Ear Diseases Females Histiocytosis, Langerhans-Cell Homo sapiens Otitis Media Pulmonary Fibrosis | ||
| 5 (39.0%) |
18365596 |
Langerhans cell histiocytosis presented as bilateral otitis media and mastoiditis. Skoulakis CE, Drivas EI, Papadakis CE, Bizaki AJ, Stavroulaki P, Helidonis ES. Turk J Pediatr. 2008;50(1):70-3. |
| Mastoiditis | ||
| CD1A | ||
| Differential Diagnosis Fatal Outcome Histiocytosis, Langerhans-Cell Homo sapiens Infant Male Mastoiditis Rare Diseases X-Ray Computed Tomography | ||
| 5 (39.0%) |
17171082 |
Multifocal langerhans' cell histiocytosis involving bilateral temporal bones, lungs, and hypothalamus in an adult. Whitaker EG, Cerenko D, Muller S, Hudgins P. Skull Base Surg. 1999;9(1):51-6. |
| Mastoiditis | ||
| 5 (39.0%) |
12673514 |
[Langerhans cell histiocytosis: petrosal remodelling after chemotherapy--case report and review of the literature]. Forster U, Klingebiel R, Schulte Overberg U, Sarioglu N, Lehmann R. Laryngorhinootologie. 2003;82(3):166-70. |
| Mastoiditis | ||
| Antineoplastic Combined Chemotherapy Protocols Child, Preschool Females Follow-Up Studies Hearing Tests Histiocytosis, Langerhans-Cell Homo sapiens Magnetic Resonance Imaging Otitis Media X-Ray Computed Tomography | ||
| 5 (39.0%) |
12107521 |
Bilateral multifocal uveal juvenile xanthogranuloma in a young boy with systemic disease. Labalette P, Guilbert F, Jourdel D, Nelken B, Cuvellier JC, Maurage CA. Graefes Arch Clin Exp Ophthalmol. 2002;240(6):506-9. |
| Macrocephaly | ||
| CD1A CD68 S100A1 | ||
| Biopsy Hematoma, Subdural, Chronic Homo sapiens Infant Intracranial Hypertension Juvenile Xanthogranuloma Male Skin Uveal Diseases |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 209
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000873 | Diabetes insipidus | 48 |
| HP:0032252 | Granuloma | 35 |
| HP:0100727 | Histiocytosis | 31 |
| HP:0002835 | Aspiration | 21 |
| HP:0002107 | Pneumothorax | 15 |
| HP:0002664 | Neoplasm | 15 |
| HP:0100242 | Sarcoma | 12 |
| HP:0001909 | Leukemia | 11 |
| HP:0030731 | Carcinoma | 11 |
| HP:0002754 | Osteomyelitis | 10 |
| HP:0000822 | Hypertension | 9 |
| HP:0002108 | Spontaneous pneumothorax | 8 |
| HP:0200034 | Papule | 8 |
| HP:0002861 | Melanoma | 7 |
| HP:0100620 | Germinoma | 7 |
| HP:0001945 | Fever | 6 |
| HP:0002176 | Spinal cord compression | 6 |
| HP:0002955 | Granulomatosis | 6 |
| HP:0012315 | Histiocytoma | 6 |
| HP:0001251 | Ataxia | 5 |
| HP:0002206 | Pulmonary fibrosis | 5 |
| HP:0002488 | Acute leukemia | 5 |
| HP:0002878 | Respiratory failure | 5 |
| HP:0005523 | Lymphoproliferative disorder | 5 |
| HP:0025615 | Abscess | 5 |
| HP:0100646 | Thyroiditis | 5 |
| HP:0000819 | Diabetes mellitus | 4 |
| HP:0000832 | Primary hypothyroidism | 4 |
| HP:0000988 | Skin rash | 4 |
| HP:0001875 | Neutropenia | 4 |
| HP:0002097 | Emphysema | 4 |
| HP:0002240 | Hepatomegaly | 4 |
| HP:0002716 | Lymphadenopathy | 4 |
| HP:0100658 | Cellulitis | 4 |
| HP:0000704 | Periodontitis | 3 |
| HP:0000853 | Goiter | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001880 | Eosinophilia | 3 |
| HP:0002090 | Pneumonia | 3 |
| HP:0002243 | Protein-losing enteropathy | 3 |
| HP:0002721 | Immunodeficiency | 3 |
| HP:0002797 | Osteolysis | 3 |
| HP:0002860 | Squamous cell carcinoma | 3 |
| HP:0002863 | Myelodysplasia | 3 |
| HP:0003072 | Hypercalcemia | 3 |
| HP:0003418 | Back pain | 3 |
| HP:0032445 | Pulmonary cyst | 3 |
| HP:0040075 | Hypopituitarism | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000473 | Torticollis | 2 |
| HP:0000651 | Diplopia | 2 |
| HP:0000824 | Growth hormone deficiency | 2 |
| HP:0000843 | Hyperparathyroidism | 2 |
| HP:0000952 | Jaundice | 2 |
| HP:0000964 | Eczema | 2 |
| HP:0000989 | Pruritus | 2 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0001396 | Cholestasis | 2 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0001482 | Subcutaneous nodule | 2 |
| HP:0001744 | Splenomegaly | 2 |
| HP:0001806 | Onycholysis | 2 |
| HP:0001818 | Paronychia | 2 |
| HP:0001876 | Pancytopenia | 2 |
| HP:0001903 | Anemia | 2 |
| HP:0002027 | Abdominal pain | 2 |
| HP:0002098 | Respiratory distress | 2 |
| HP:0002113 | Pulmonary infiltrates | 2 |
| HP:0002202 | Pleural effusion | 2 |
| HP:0002321 | Vertigo | 2 |
| HP:0002613 | Biliary cirrhosis | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0003974 | Absent radius | 2 |
| HP:0009792 | Teratoma | 2 |
| HP:0009797 | Cholesteatoma | 2 |
| HP:0010566 | Hamartoma | 2 |
| HP:0010783 | Erythema | 2 |
| HP:0012115 | Hepatitis | 2 |
| HP:0012735 | Cough | 2 |
| HP:0025421 | Pneumomediastinum | 2 |
| HP:0100584 | Endocarditis | 2 |
| HP:0000020 | Urinary incontinence | 1 |
| HP:0000103 | Polyuria | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000155 | Oral ulcer | 1 |
| HP:0000360 | Tinnitus | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000613 | Photophobia | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000829 | Hypoparathyroidism | 1 |
| HP:0000830 | Anterior hypopituitarism | 1 |
| HP:0000839 | Pituitary dwarfism | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0000962 | Hyperkeratosis | 1 |
| HP:0000967 | Petechiae | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000991 | Xanthomatosis | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0001019 | Erythroderma | 1 |
| HP:0001025 | Urticaria | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001051 | Seborrheic dermatitis | 1 |
| HP:0001114 | Xanthelasma | 1 |
| HP:0001138 | Optic neuropathy | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001607 | Subglottic stenosis | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0001735 | Acute pancreatitis | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0001952 | Glucose intolerance | 1 |
| HP:0001959 | Polydipsia | 1 |
| HP:0001974 | Leukocytosis | 1 |
| HP:0001978 | Extramedullary hematopoiesis | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002028 | Chronic diarrhea | 1 |
| HP:0002041 | Intractable diarrhea | 1 |
| HP:0002073 | Progressive cerebellar ataxia | 1 |
| HP:0002105 | Hemoptysis | 1 |
| HP:0002152 | Hyperproteinemia | 1 |
| HP:0002180 | Neurodegeneration | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002318 | Cervical myelopathy | 1 |
| HP:0002451 | Limb dystonia | 1 |
| HP:0002573 | Hematochezia | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002653 | Bone pain | 1 |
| HP:0002668 | Paraganglioma | 1 |
| HP:0002715 | Abnormality of the immune system | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002729 | Follicular hyperplasia | 1 |
| HP:0002756 | Pathologic fracture | 1 |
| HP:0002875 | Exertional dyspnea | 1 |
| HP:0003401 | Paresthesia | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0003651 | Foam cells | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004787 | Fulminant hepatitis | 1 |
| HP:0005206 | Pancreatic pseudocyst | 1 |
| HP:0005263 | Gastritis | 1 |
| HP:0005387 | Combined immunodeficiency | 1 |
| HP:0005912 | Biliary atresia | 1 |
| HP:0006280 | Chronic pancreatitis | 1 |
| HP:0007274 | Recurrent bacterial meningitis | 1 |
| HP:0007787 | Posterior subcapsular cataract | 1 |
| HP:0010447 | Anal fistula | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0010980 | Hyperlipoproteinemia | 1 |
| HP:0011349 | Abducens palsy | 1 |
| HP:0011497 | Iris neovascularization | 1 |
| HP:0011900 | Hypofibrinogenemia | 1 |
| HP:0011946 | Bronchiolitis obliterans | 1 |
| HP:0011950 | Bronchiolitis | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0012108 | Open angle glaucoma | 1 |
| HP:0012311 | Monocytosis | 1 |
| HP:0012593 | Nephrotic range proteinuria | 1 |
| HP:0012740 | Papilloma | 1 |
| HP:0012798 | Pulmonary lymphangiomyomatosis | 1 |
| HP:0020073 | Hypopigmented macule | 1 |
| HP:0025084 | Folliculitis | 1 |
| HP:0025388 | Thyroid nodule | 1 |
| HP:0025402 | Square-wave jerks | 1 |
| HP:0025636 | Endometritis | 1 |
| HP:0030065 | Primitive neuroectodermal tumor | 1 |
| HP:0030166 | Night sweats | 1 |
| HP:0030350 | Erythematous papule | 1 |
| HP:0030426 | Ossifying fibroma | 1 |
| HP:0030430 | Neuroma | 1 |
| HP:0030766 | Ear pain | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0031047 | Paraproteinemia | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031364 | Ecchymosis | 1 |
| HP:0031625 | Pseudoaneurysm | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0032163 | Molluscum contagiosum | 1 |
| HP:0032204 | Chronic active Epstein-Barr virus infection | 1 |
| HP:0032282 | Contact dermatitis | 1 |
| HP:0040313 | Oligoarthritis | 1 |
| HP:0100246 | Osteoma | 1 |
| HP:0100279 | Ulcerative colitis | 1 |
| HP:0100621 | Dysgerminoma | 1 |
| HP:0100699 | Scarring | 1 |
| HP:0100721 | Mediastinal lymphadenopathy | 1 |
| HP:0100749 | Chest pain | 1 |
| HP:0100829 | Galactorrhea | 1 |
| HP:0200036 | Skin nodule | 1 |
| HP:0200039 | Pustule | 1 |
| HP:0200040 | Epidermoid cyst | 1 |
| HP:0410017 | Otitis externa | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|