{"Name":"Medulloblastoma","DiseaseID__c":"GARD:0007005","id":7005,"encodedName":"medulloblastoma","IsDeleted":false,"Disease_Name_Full__c":"Medulloblastoma","Xref_IDs__c":"1156923005; 423022820; 443333004; C0025149; C3222; D008527; DOID:0050902; DOID:0060104; HP:0002885; MEDGEN:7517; MONDO:0007959; OMIM:155255; ORPHA:616","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007959","Disease_Description__c":"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.","GARD_Name__c":"Medulloblastoma","GARD_Synonym__c":"brain medulloblastoma; cerebellar medulloblastoma; cerebellum embryonal neoplasm; mdb; mdb - medulloblastoma; medulloblastoma predisposition syndrome; medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation; medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation; medulloblastoma, malignant; medulloblastoma, somatic; medulloblastoma, sufu-related; medulloblastomas","Curated_Disease_Description_Source__c":"MONDO:0007959","Curated_Disease_Description__c":"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:616","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007959","ORPHANET_ID__c":"ORPHA:616","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Meduloblastoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"meduloblastoma","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":"A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.","Curated_Disease_Description_Source__c":"MONDO:0007959","GARD_Synonym__c":"brain medulloblastoma; cerebellar medulloblastoma; cerebellum embryonal neoplasm; mdb; mdb - medulloblastoma; medulloblastoma predisposition syndrome; medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation; medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation; medulloblastoma, malignant; medulloblastoma, somatic; medulloblastoma, sufu-related; medulloblastomas","Name":"Medulloblastoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.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":"All ages","Provided_By__c":"ORPHA:616"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0025149"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/616","Source__c":"C0025149; MONDO:0007959; ORPHA:616","Xref__c":"ORPHA:616"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7517","Source__c":"C0025149","Xref__c":"MEDGEN:7517"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008527","Source__c":"C0025149; MONDO:0007959","Xref__c":"D008527"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050902","Source__c":"MONDO:0007959","Xref__c":"DOID:0050902"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060104","Source__c":"MONDO:0007959","Xref__c":"DOID:0060104"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=443333004","Source__c":"C0025149; MONDO:0007959","Xref__c":"443333004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3222","Source__c":"C0025149; MONDO:0007959","Xref__c":"C3222"},{"URL__c":"https://www.omim.org/entry/155255","Source__c":"C0025149; MONDO:0007959; ORPHA:616","Xref__c":"OMIM:155255"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025149","Source__c":"C0025149","Xref__c":"C0025149"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156923005","Source__c":"C0025149","Xref__c":"1156923005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002885","Source__c":"C0025149","Xref__c":"HP:0002885"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007959","Source__c":"GARD:0007005","Xref__c":"MONDO:0007959"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022820","Xref__c":"423022820"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPR161","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ELP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/elp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CTNNB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctnnb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SUFU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTCH2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BRCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Uncommon (<1-4%)","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:616","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002885","HPO_Name__c":"Medulloblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","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 the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007352","HPO_Name__c":"Cerebellar calcifications","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple adenomatous polyps in the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005227","HPO_Synonym__c":"Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps","HPO_Name__c":"Adenomatous colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001291","HPO_Synonym__c":"Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement","HPO_Name__c":"Abnormal cranial nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011695","HPO_Name__c":"Cerebellar hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The progressive development of an abnormally large skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004481","HPO_Synonym__c":"Macrocephaly, progressive; Progressively abnormally enlarging cranium; Progressively abnormally enlarging skull","HPO_Name__c":"Progressive macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","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:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012658","HPO_Synonym__c":"Abnormal brain FDG PET scan","HPO_Name__c":"Abnormal brain FDG positron emission tomography","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_PET"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002350","HPO_Synonym__c":"Cerebellar cysts","HPO_Name__c":"Cerebellar cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of both the extrinsic and intrinsic ocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007824","HPO_Synonym__c":"Complete ophthalmoplegia; Global paralysis of gaze; Total internal and external ophthalmoplegia","HPO_Name__c":"Total ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009878","HPO_Name__c":"Cerebellar ataxia associated with quadrupedal gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","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"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007129","HPO_Name__c":"Cerebellar medulloblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000270","HPO_Synonym__c":"Broad late closing cranial sutures; Delayed closure of fontanel; Delayed closure of fontanelles; Delayed closure of fontanels; Delayed closure of the fontanelles; Delayed cranial suture closure; Delayed fontanel closure; Delayed fontanelle closure; Late closing fontanelles; Late closure of fontanelle; Late-closing fontanelle; Open sutures","HPO_Name__c":"Delayed cranial suture closure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment that affects both ears.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008619","HPO_Synonym__c":"Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral","HPO_Name__c":"Bilateral sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:616","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm affecting the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010302","HPO_Synonym__c":"Spinal cord tumor; Tumor of the spinal cord","HPO_Name__c":"Spinal cord tumor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["brain medulloblastoma"," cerebellar medulloblastoma"," cerebellum embryonal neoplasm"," mdb"," mdb - medulloblastoma"," medulloblastoma predisposition syndrome"," medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation"," medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation"," medulloblastoma, malignant"," medulloblastoma, somatic"," medulloblastoma, sufu-related"," medulloblastomas"]}