| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 9 (39.0%) |
25471517 |
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N. J Hum Genet. 2015;60(2):97-101. |
| Progressive microcephaly | ||
| QARS | ||
| c|DUP|1485|| c|SUB|T|169|C;RS#:587777333 p|SUB|K|496|* p|SUB|Y|57|H;RS#:587777333 rs1553751726 rs1553752741 | ||
| Age of Onset Amino Acyl-tRNA Synthetases Brain Diseases Child DNA Mutational Analysis Electroencephalography Epilepsy Exome Homo sapiens Magnetic Resonance Imaging Male Mutation Sibling | ||
| 9 (39.0%) |
18674647 |
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D. Eur J Med Genet. 2008;51(6):615-21. |
| Microcephaly | ||
| Adult Chromosome Deletion Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 9 Contracture Exophthalmos Females Fluorescent in Situ Hybridization Homo sapiens Phenotype | ||
| 9 (39.0%) |
17909991 |
Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature. Kaczala GW, Poskitt KJ, Steinbok P, Hendson G, Eydoux P, Solimano AJ. Am J Perinatol. 2007;24(9):507-9. |
| Macrocephaly | ||
| MYCN | ||
| Brain Neoplasms Craniofacial Abnormalities Homo sapiens Immunohistochemistry Infant, Newborn Magnetic Resonance Imaging Male Neuroblastoma Neuroectodermal Tumor, Primitive Ultrasonography X-Ray Computed Tomography | ||
| 9 (39.0%) |
8397936 (3053866) |
Bilateral neuroblastoma in situ associated with microcephaly. Park WS, Chi JG. J Korean Med Sci. 1993;8(2):99-103. |
| Microcephaly | ||
| Adrenal Gland Neoplasms Adult Carcinoma in Situ Females Homo sapiens Infant, Newborn Microcephaly Neuroblastoma Pregnancy | ||
| 9 (39.0%) |
7265375 |
Solitary pelvic kidney and neuroblastoma in a child. Morales L, Rovira J, Mongard M, Baeta E, Querol FX. J Urol. 1981;126(2):249-50. |
| Microcephaly | ||
| Adrenal Gland Neoplasms Child, Preschool Females Homo sapiens Kidney Microcephaly Neuroblastoma Pelvic Neoplasms Uterus | ||
| 16 (35.8%) |
7056009 |
Torticollis as the presenting sign in cervical spine infection and tumor. Visudhiphan P, Chiemchanya S, Somburanasin R, Dheandhanoo D. Clin Pediatr (Phila). 1982;21(2):71-6. |
| Torticollis Osteomyelitis | ||
| Abscess Astrocytoma Cervical Vertebrae Child Child, Preschool Females Homo sapiens Infant Male Neuroblastoma Osteomyelitis Pharyngeal Diseases Sarcoma Spinal Cord Neoplasms Torticollis | ||
| 17 (35.3%) |
30655046 |
Opsoclonus in a child with neuroborreliosis: Case report and review of the literature. Gibaud M, Pauvert O, Gueden S, Durigneux J, Van Bogaert P. Arch Pediatr. 2019;26(2):118-119. |
| Facial palsy | ||
| CSF2 | ||
| Borrelia burgdorferi Child Females Homo sapiens Lyme Neuroborreliosis Ocular Motility Disorders | ||
| 17 (35.3%) |
8729500 |
Primary neuroblastoma of the facial nerve presenting as a recurrent facial paralysis. Fenton CJ, Coddington R, Ramsay AD, Garth RJ. J Laryngol Otol. 1996;110(2):151-3. |
| Facial paralysis | ||
| Coloring Agents Cranial Nerve Neoplasms Homo sapiens Immunohistochemistry Male Neuroblastoma | ||
| 17 (35.3%) |
7291846 |
[Cerebral neuroblastoma in the adult. Clinical and C.T. scan aspects (author's transl)]. Boudouresques G, Boudouresques J, Grisoli F, Hassoun J, Delpuech F, Vincentelli F, Khalil R. Rev Neurol (Paris). 1980;136(12):879-81. |
| Facial paralysis | ||
| Adult Brain Neoplasms Homo sapiens Male Neuroblastoma | ||
| 17 (35.3%) |
3614540 |
[A case of cerebellar neuroblastoma]. Ibayashi N, Ueda S, Uchibori M, Hirakawa K. No Shinkei Geka. 1987;15(4):459-63. |
| Facial palsy | ||
| GFAP | ||
| Cerebellar Neoplasms Child, Preschool Homo sapiens Male Neuroblastoma |
Total: 2
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0004375 | Neoplasm of the nervous system | Very frequent (99-80%) |
| HP:0011976 | Elevated urinary catecholamines | Very frequent (99-80%) |
Total: 296
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002664 | Neoplasm | 70 |
| HP:0100242 | Sarcoma | 54 |
| HP:0030731 | Carcinoma | 47 |
| HP:0002666 | Pheochromocytoma | 45 |
| HP:0000822 | Hypertension | 34 |
| HP:0001909 | Leukemia | 30 |
| HP:0010543 | Opsoclonus | 30 |
| HP:0001336 | Myoclonus | 24 |
| HP:0009792 | Teratoma | 24 |
| HP:0030065 | Primitive neuroectodermal tumor | 24 |
| HP:0031925 | Rosette | 24 |
| HP:0031500 | Abdominal mass | 22 |
| HP:0001251 | Ataxia | 18 |
| HP:0002861 | Melanoma | 18 |
| HP:0100008 | Schwannoma | 18 |
| HP:0002835 | Aspiration | 15 |
| HP:0002240 | Hepatomegaly | 13 |
| HP:0001298 | Encephalopathy | 12 |
| HP:0001028 | Hemangioma | 10 |
| HP:0002488 | Acute leukemia | 9 |
| HP:0002090 | Pneumonia | 8 |
| HP:0002098 | Respiratory distress | 8 |
| HP:0002668 | Paraganglioma | 8 |
| HP:0004376 | Neuroblastic tumors | 8 |
| HP:0010550 | Paraplegia | 8 |
| HP:0031926 | Homer Wright rosette | 8 |
| HP:0000952 | Jaundice | 7 |
| HP:0002176 | Spinal cord compression | 7 |
| HP:0002277 | Horner syndrome | 7 |
| HP:0007110 | Central hypoventilation | 7 |
| HP:0030064 | Neurocytoma | 7 |
| HP:0100790 | Hernia | 7 |
| HP:0002754 | Osteomyelitis | 6 |
| HP:0100632 | Pulmonary sequestration | 6 |
| HP:0025615 | Abscess | 5 |
| HP:0030431 | Osteochondroma | 5 |
| HP:0031273 | Shock | 5 |
| HP:0031501 | Pelvic mass | 5 |
| HP:0001638 | Cardiomyopathy | 4 |
| HP:0001649 | Tachycardia | 4 |
| HP:0001875 | Neutropenia | 4 |
| HP:0001903 | Anemia | 4 |
| HP:0002027 | Abdominal pain | 4 |
| HP:0002888 | Ependymoma | 4 |
| HP:0010566 | Hamartoma | 4 |
| HP:0000016 | Urinary retention | 3 |
| HP:0000126 | Hydronephrosis | 3 |
| HP:0000508 | Ptosis | 3 |
| HP:0000520 | Proptosis | 3 |
| HP:0000618 | Blindness | 3 |
| HP:0000979 | Purpura | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0001482 | Subcutaneous nodule | 3 |
| HP:0001541 | Ascites | 3 |
| HP:0001919 | Acute kidney injury | 3 |
| HP:0001943 | Hypoglycemia | 3 |
| HP:0001945 | Fever | 3 |
| HP:0002013 | Vomiting | 3 |
| HP:0002243 | Protein-losing enteropathy | 3 |
| HP:0002435 | Meningocele | 3 |
| HP:0002650 | Scoliosis | 3 |
| HP:0002791 | Hypoventilation | 3 |
| HP:0003072 | Hypercalcemia | 3 |
| HP:0005306 | Capillary hemangioma | 3 |
| HP:0006748 | Adrenal pheochromocytoma | 3 |
| HP:0012032 | Lipoma | 3 |
| HP:0012315 | Histiocytoma | 3 |
| HP:0032404 | Testicular mass | 3 |
| HP:0100570 | Carcinoid tumor | 3 |
| HP:0000083 | Renal insufficiency | 2 |
| HP:0000100 | Nephrotic syndrome | 2 |
| HP:0000107 | Renal cyst | 2 |
| HP:0000112 | Nephropathy | 2 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000718 | Aggressive behavior | 2 |
| HP:0000767 | Pectus excavatum | 2 |
| HP:0000790 | Hematuria | 2 |
| HP:0001067 | Neurofibromas | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001287 | Meningitis | 2 |
| HP:0001324 | Muscle weakness | 2 |
| HP:0001394 | Cirrhosis | 2 |
| HP:0001558 | Decreased fetal movement | 2 |
| HP:0001876 | Pancytopenia | 2 |
| HP:0002014 | Diarrhea | 2 |
| HP:0002041 | Intractable diarrhea | 2 |
| HP:0002202 | Pleural effusion | 2 |
| HP:0002315 | Headache | 2 |
| HP:0002860 | Squamous cell carcinoma | 2 |
| HP:0002863 | Myelodysplasia | 2 |
| HP:0002878 | Respiratory failure | 2 |
| HP:0002898 | Embryonal neoplasm | 2 |
| HP:0003002 | Breast carcinoma | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0010310 | Chylothorax | 2 |
| HP:0011286 | Total colonic aganglionosis | 2 |
| HP:0011974 | Myelofibrosis | 2 |
| HP:0012074 | Tonic pupil | 2 |
| HP:0012151 | Hemothorax | 2 |
| HP:0012226 | Ovarian teratoma | 2 |
| HP:0025247 | Dermoid cyst | 2 |
| HP:0025318 | Ovarian carcinoma | 2 |
| HP:0030071 | Medulloepithelioma | 2 |
| HP:0031364 | Ecchymosis | 2 |
| HP:0032118 | Retinitis | 2 |
| HP:0032252 | Granuloma | 2 |
| HP:0100614 | Myositis | 2 |
| HP:0100658 | Cellulitis | 2 |
| HP:0100727 | Histiocytosis | 2 |
| HP:0100735 | Hypertensive crisis | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0000028 | Cryptorchidism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000049 | Shawl scrotum | 1 |
| HP:0000070 | Ureterocele | 1 |
| HP:0000074 | Ureteropelvic junction obstruction | 1 |
| HP:0000075 | Renal duplication | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000099 | Glomerulonephritis | 1 |
| HP:0000103 | Polyuria | 1 |
| HP:0000125 | Pelvic kidney | 1 |
| HP:0000136 | Bifid uterus | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000243 | Trigonocephaly | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000311 | Round face | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000601 | Hypotelorism | 1 |
| HP:0000664 | Synophrys | 1 |
| HP:0000691 | Microdontia | 1 |
| HP:0000695 | Natal tooth | 1 |
| HP:0000752 | Hyperactivity | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000832 | Primary hypothyroidism | 1 |
| HP:0000843 | Hyperparathyroidism | 1 |
| HP:0000859 | Hyperaldosteronism | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0000995 | Melanocytic nevus | 1 |
| HP:0001082 | Cholecystitis | 1 |
| HP:0001095 | Hypertensive retinopathy | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001281 | Tetany | 1 |
| HP:0001283 | Bulbar palsy | 1 |
| HP:0001310 | Dysmetria | 1 |
| HP:0001334 | Communicating hydrocephalus | 1 |
| HP:0001399 | Hepatic failure | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001510 | Growth delay | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001640 | Cardiomegaly | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0001878 | Hemolytic anemia | 1 |
| HP:0001888 | Lymphopenia | 1 |
| HP:0001891 | Iron deficiency anemia | 1 |
| HP:0001913 | Granulocytopenia | 1 |
| HP:0001920 | Renal artery stenosis | 1 |
| HP:0001959 | Polydipsia | 1 |
| HP:0001974 | Leukocytosis | 1 |
| HP:0001978 | Extramedullary hematopoiesis | 1 |
| HP:0001987 | Hyperammonemia | 1 |
| HP:0001994 | Renal Fanconi syndrome | 1 |
| HP:0001998 | Neonatal hypoglycemia | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002040 | Esophageal varix | 1 |
| HP:0002047 | Malignant hyperthermia | 1 |
| HP:0002094 | Dyspnea | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002110 | Bronchiectasis | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002212 | Curly hair | 1 |
| HP:0002270 | Abnormality of the autonomic nervous system | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0002524 | Cataplexy | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002558 | Supernumerary nipple | 1 |
| HP:0002584 | Intestinal bleeding | 1 |
| HP:0002590 | Paralytic ileus | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002643 | Neonatal respiratory distress | 1 |
| HP:0002781 | Upper airway obstruction | 1 |
| HP:0002808 | Kyphosis | 1 |
| HP:0002840 | Lymphadenitis | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0002900 | Hypokalemia | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0002912 | Methylmalonic acidemia | 1 |
| HP:0002943 | Thoracic scoliosis | 1 |
| HP:0002960 | Autoimmunity | 1 |
| HP:0003095 | Septic arthritis | 1 |
| HP:0003355 | Aminoaciduria | 1 |
| HP:0003419 | Low back pain | 1 |
| HP:0003470 | Paralysis | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0004444 | Spherocytosis | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0005208 | Secretory diarrhea | 1 |
| HP:0005263 | Gastritis | 1 |
| HP:0005280 | Depressed nasal bridge | 1 |
| HP:0005521 | Disseminated intravascular coagulation | 1 |
| HP:0005523 | Lymphoproliferative disorder | 1 |
| HP:0005945 | Laryngeal obstruction | 1 |
| HP:0005977 | Hypochloremic metabolic alkalosis | 1 |
| HP:0006559 | Hepatic calcification | 1 |
| HP:0006740 | Transitional cell carcinoma of the bladder | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0007269 | Spinal muscular atrophy | 1 |
| HP:0008071 | Maternal hypertension | 1 |
| HP:0008221 | Adrenal hyperplasia | 1 |
| HP:0008256 | Adrenocortical adenoma | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0010280 | Stomatitis | 1 |
| HP:0010307 | Stridor | 1 |
| HP:0010314 | Premature thelarche | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0010512 | Adrenal calcification | 1 |
| HP:0010783 | Erythema | 1 |
| HP:0010799 | Pinealoma | 1 |
| HP:0010866 | Abdominal wall defect | 1 |
| HP:0010960 | Bronchopulmonary sequestration | 1 |
| HP:0010962 | Extralobar sequestration | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011672 | Cardiac myxoma | 1 |
| HP:0011769 | Ectopic parathyroid | 1 |
| HP:0011798 | Renal oncocytoma | 1 |
| HP:0011854 | Hemoperitoneum | 1 |
| HP:0011900 | Hypofibrinogenemia | 1 |
| HP:0011946 | Bronchiolitis obliterans | 1 |
| HP:0011976 | Elevated urinary catecholamines | 1 |
| HP:0012050 | Anasarca | 1 |
| HP:0012062 | Bone cyst | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012119 | Methemoglobinemia | 1 |
| HP:0012231 | Exudative retinal detachment | 1 |
| HP:0012246 | Oculomotor nerve palsy | 1 |
| HP:0012324 | Myeloid leukemia | 1 |
| HP:0012418 | Hypoxemia | 1 |
| HP:0012486 | Myelitis | 1 |
| HP:0012597 | Heavy proteinuria | 1 |
| HP:0012735 | Cough | 1 |
| HP:0012847 | Epilepsia partialis continua | 1 |
| HP:0030050 | Narcolepsy | 1 |
| HP:0030063 | Neuroepithelial neoplasm | 1 |
| HP:0030070 | Central primitive neuroectodermal tumor | 1 |
| HP:0030149 | Cardiogenic shock | 1 |
| HP:0030157 | Flank pain | 1 |
| HP:0030357 | Small cell lung carcinoma | 1 |
| HP:0030722 | Ectopic liver | 1 |
| HP:0030741 | Mediastinal teratoma | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0031002 | Neuritis | 1 |
| HP:0031207 | Hepatic hemangioma | 1 |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | 1 |
| HP:0031245 | Productive cough | 1 |
| HP:0031491 | Continuous spike and waves during slow sleep | 1 |
| HP:0031690 | Opportunistic infection | 1 |
| HP:0031846 | Femur fracture | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0031927 | Flexner-Wintersteiner rosette | 1 |
| HP:0031972 | Presyncope | 1 |
| HP:0032026 | Anetoderma | 1 |
| HP:0032070 | Leptomeningeal enhancement | 1 |
| HP:0040075 | Hypopituitarism | 1 |
| HP:0040169 | Loose anagen hair | 1 |
| HP:0040192 | APUdoma | 1 |
| HP:0045040 | Abnormal lactate dehydrogenase activity | 1 |
| HP:0100001 | Malignant mesothelioma | 1 |
| HP:0100006 | Neoplasm of the central nervous system | 1 |
| HP:0100028 | Ectopic thyroid | 1 |
| HP:0100518 | Dysuria | 1 |
| HP:0100580 | Barrett esophagus | 1 |
| HP:0100584 | Endocarditis | 1 |
| HP:0100620 | Germinoma | 1 |
| HP:0100633 | Esophagitis | 1 |
| HP:0100660 | Dyskinesia | 1 |
| HP:0100723 | Gastrointestinal stroma tumor | 1 |
| HP:0100726 | Kaposi's sarcoma | 1 |
| HP:0100750 | Atelectasis | 1 |
| HP:0100769 | Synovitis | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
| HP:0200040 | Epidermoid cyst | 1 |
| HP:0200119 | Acute hepatitis | 1 |
Total: 8
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| MYCN | MYCN proto-oncogene, bHLH transcription factor | 4613 |
| LMO1 | LIM domain only 1 | 4004 |
| PHOX2B | paired like homeobox 2B | 8929 |
| TOP2A | DNA topoisomerase II alpha | 7153 |
| ALK | ALK receptor tyrosine kinase | 238 |
| ALK | ALK receptor tyrosine kinase | 238 |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 57531 |
| LIN28B | lin-28 homolog B | 389421 |