{"Name":"Neuroblastoma","DiseaseID__c":"GARD:0007185","id":7185,"encodedName":"neuroblastoma","IsDeleted":false,"Disease_Name_Full__c":"Neuroblastoma","Xref_IDs__c":"432328008; 87364003; C0027819; C3270; D009447; DOID:769; HP:0003006; MEDGEN:18012; MONDO:0005072; ORPHA:635","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0005072","Disease_Description__c":"Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.","GARD_Name__c":"Neuroblastoma","GARD_Synonym__c":"cancer of early nerve cells; nb; nb - neuroblastoma; neural crest tumor, malignant; neuroblastoma (schwannian stroma-poor); neuroblastoma, malignant","Curated_Disease_Description_Source__c":"GARD:0007185","Curated_Disease_Description__c":"Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin. In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue. Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:635","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005072","ORPHANET_ID__c":"ORPHA:635","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuroblastoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuroblastoma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin. In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue. Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.","Curated_Disease_Description_Source__c":"GARD:0007185","GARD_Synonym__c":"cancer of early nerve cells; nb; nb - neuroblastoma; neural crest tumor, malignant; neuroblastoma (schwannian stroma-poor); neuroblastoma, malignant","Name":"Neuroblastoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Children's Neuroblastoma Cancer Foundation","Website__c":"https://www.cncfhope.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:635"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:635"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:635"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:635"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:635"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0027819"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007185","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=432328008","Source__c":"C0027819; MONDO:0005072","Xref__c":"432328008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009447","Source__c":"C0027819; MONDO:0005072","Xref__c":"D009447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18012","Source__c":"C0027819","Xref__c":"MEDGEN:18012"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3270","Source__c":"C0027819; MONDO:0005072","Xref__c":"C3270"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027819","Source__c":"C0027819","Xref__c":"C0027819"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A769","Source__c":"MONDO:0005072","Xref__c":"DOID:769"},{"URL__c":"https://www.orpha.net/en/disease/detail/635","Source__c":"C0027819; MONDO:0005072; ORPHA:635","Xref__c":"ORPHA:635"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003006","Source__c":"C0027819","Xref__c":"HP:0003006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=87364003","Source__c":"C0027819","Xref__c":"87364003"},{"URL__c":"https://medlineplus.gov/genetics/condition/neuroblastoma","Source__c":"GARD:0007185","Xref__c":"https://medlineplus.gov/genetics/condition/neuroblastoma"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005072","Source__c":"GARD:0007185","Xref__c":"MONDO:0005072"},{"URL__c":"https://www.cancer.gov/types/neuroblastoma"},{"URL__c":"https://medlineplus.gov/neuroblastoma.html"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of vanillylmandelic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011978","HPO_Name__c":"Elevated urinary vanillylmandelic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031500","HPO_Name__c":"Abdominal mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in catecholamine concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003334","HPO_Name__c":"Elevated circulating catecholamine level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002277","HPO_Synonym__c":"Horner's syndrome; Oculosympathetic palsy","HPO_Name__c":"Horner syndrome","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025553","HPO_Synonym__c":"Raccoon eyes","HPO_Name__c":"Periorbital ecchymosis with tarsal plate sparing","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of pallor that is secondary to the presence of anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001017","HPO_Name__c":"Anemic pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031955","HPO_Name__c":"Antalgic gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011976","HPO_Synonym__c":"Elevated urinary catecholamines","HPO_Name__c":"Elevated urinary catecholamine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003006","HPO_Synonym__c":"Cancer of early nerve cells","HPO_Name__c":"Neuroblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004375","HPO_Synonym__c":"Tumor of the nervous system","HPO_Name__c":"Neoplasm of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of homovanillic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011977","HPO_Name__c":"Elevated urinary homovanillic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bursts of large-amplitude multidirectional saccades without intersaccadic interval","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010543","HPO_Name__c":"Opsoclonus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:635","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["cancer of early nerve cells"," nb"," nb - neuroblastoma"," neural crest tumor, malignant"," neuroblastoma (schwannian stroma-poor)"," neuroblastoma, malignant"]}