{"Name":"Neurofibromatosis, type 2","DiseaseID__c":"GARD:0007193","id":7193,"encodedName":"neurofibromatosis-type-2","IsDeleted":false,"Disease_Name_Full__c":"Neurofibromatosis, type 2","Xref_IDs__c":"92503002; C0027832; C3274; DOID:0111252; MEDGEN:18014; MONDO:0007039; OMIM:101000; ORPHA:637; Q85.02","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007039","Disease_Description__c":"Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.","GARD_Name__c":"Neurofibromatosis, type 2","GARD_Synonym__c":"banf - bilateral acoustic neurofibromatosis; bilateral acoustic neurofibromatosis; familial acoustic neuroma; familial vestibular schwannoma; full neurofibromatosis type 2; full nf2; full nf2-related schwannomatosis; neurofibromatosis 2; neurofibromatosis type 2; neurofibromatosis, central type; nf2; nf2-related schwannomatosis; nonmosaic neurofibromatosis type 2; nonmosaic nf2-related schwannomatosis; schwannomatosis, vestibular; swnv; vestibular schwannomatosis","Curated_Disease_Description_Source__c":"GARD:0007193","Curated_Disease_Description__c":"Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumors are called meningiomas. Tumors can also occur on other nerves or tissues in the brain or spinal cord in people with this condition. The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:637","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007039","ORPHANET_ID__c":"ORPHA:637","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Schwannomatosis completa asociada a nf2","Spanish_Description_Source__c":"ORPHA:637","Spanish_Description__c":"La neurofibromatosis tipo 2 (NF2) es un trastorno de predisposición a tumores caracterizado por el desarrollo de múltiples schwannomas y meningiomas.","Spanish_Disease_Name__c":"schwannomatosis completa asociada a nf2","Spanish_GARD_Synonym__c":"neurofibromatosis tipo 2 completa; neurofibromatosis tipo 2 no mosaico; nf2","Category_Linearization__c":"ORPHA:98036","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":"Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumors are called meningiomas. Tumors can also occur on other nerves or tissues in the brain or spinal cord in people with this condition. The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.","Curated_Disease_Description_Source__c":"GARD:0007193","GARD_Synonym__c":"banf - bilateral acoustic neurofibromatosis; bilateral acoustic neurofibromatosis; familial acoustic neuroma; familial vestibular schwannoma; full neurofibromatosis type 2; full nf2; full nf2-related schwannomatosis; neurofibromatosis 2; neurofibromatosis type 2; neurofibromatosis, central type; nf2; nf2-related schwannomatosis; nonmosaic neurofibromatosis type 2; nonmosaic nf2-related schwannomatosis; schwannomatosis, vestibular; swnv; vestibular schwannomatosis","Name":"Neurofibromatosis, type 2","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NF Collective","Website__c":"https://nfcollective.org/"},{"Account_Name__c":"Facial Palsy UK","Website__c":"https://www.facialpalsy.org.uk/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación de Afectados de Neurofibromatosis","Website__c":"https://neurofibromatosis.es/"},{"Account_Name__c":"Asociación Argentina de Neurofibromatosis","Website__c":"https://www.aanf.org.ar/"},{"Account_Name__c":"Todo sobre neurofibromatosis"},{"Account_Name__c":"Nerve Tumours UK","Website__c":"https://nervetumours.org.uk"},{"Account_Name__c":"Children's Tumor Foundation","Website__c":"https://www.ctf.org/"},{"Account_Name__c":"Neurofibromatosis Network","Website__c":"https://www.nfnetwork.org/"},{"Account_Name__c":"Tumour Foundation of BC","Website__c":"https://www.tumourfoundation.ca"},{"Account_Name__c":"Acoustic Neuroma Association","Website__c":"https://www.anausa.org/"},{"Account_Name__c":"NF2 BioSolutions","Website__c":"https://nf2biosolutions.org/"},{"Account_Name__c":"Littlest Tumor Foundation","Website__c":"https://littlesttumor.org/"},{"Account_Name__c":"Neurofibromatosis Midwest","Website__c":"https://www.nfmidwest.org/"},{"Account_Name__c":"Neurofibromatosis California","Website__c":"https://www.nfcalifornia.org/"},{"Account_Name__c":"Neurofibromatosis Northeast","Website__c":"https://nfnortheast.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:637"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007193","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1201","Source__c":"Gene Review","Xref__c":"NBK1201"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q85.02","Source__c":"MONDO:0007039","Xref__c":"Q85.02"},{"URL__c":"https://www.omim.org/entry/101000","Source__c":"C0027832; MONDO:0007039","Xref__c":"OMIM:101000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111252","Source__c":"MONDO:0007039","Xref__c":"DOID:0111252"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027832","Source__c":"C0027832","Xref__c":"C0027832"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18014","Source__c":"C0027832","Xref__c":"MEDGEN:18014"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=92503002","Source__c":"C0027832; MONDO:0007039","Xref__c":"92503002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3274","Source__c":"C0027832; MONDO:0007039","Xref__c":"C3274"},{"URL__c":"https://www.orpha.net/en/disease/detail/637","Source__c":"C0027832; MONDO:0007039; ORPHA:637","Xref__c":"ORPHA:637"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007039","Source__c":"GARD:0007193","Xref__c":"MONDO:0007039"},{"URL__c":"https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2","Source__c":"GARD:0007193","Xref__c":"https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016518","Source__c":"C0027832","Xref__c":"D016518"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NF2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nf2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007968","HPO_Synonym__c":"Congenital retinal septum; Persistent fetal vasculature; Persistent hyperplasia of primary vitreous; Persistent hyperplastic primary vitreous; Persistent hypertrophic primary vitreous; Persistent posterior fetal fibrovascular sheath of the lens; Persistent tunica vasculosa lentis","HPO_Name__c":"Remnants of the hyaloid vascular system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bilateral vestibular schwannoma (acoustic neurinoma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009589","HPO_Synonym__c":"Bilateral acoustic neuromas","HPO_Name__c":"Bilateral vestibular schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor made up of nerve cells and nerve fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030430","HPO_Synonym__c":"Nerve tumor; Pinched nerve","HPO_Name__c":"Neuroma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an ependymoma of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002888","HPO_Name__c":"Ependymoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000587","HPO_Synonym__c":"Abnormality of the optic nerve; optic nerve abnormalities; Optic nerve issue","HPO_Name__c":"Abnormal optic nerve morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007787","HPO_Synonym__c":"Posterior subcapsular opacities of the lens","HPO_Name__c":"Posterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","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:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","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:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a peripheral schwannoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009593","HPO_Name__c":"Peripheral schwannoma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031189","HPO_Name__c":"Wrist drop","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100014","HPO_Synonym__c":"Cellophane maculopathy; Macular pucker; Premacular fibrosis; Surface wrinkling retinopathy","HPO_Name__c":"Epiretinal membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100963","HPO_Synonym__c":"Hyperaesthesia","HPO_Name__c":"Hyperesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100009","HPO_Name__c":"Intracranial meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100010","HPO_Name__c":"Spinal meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002512","HPO_Name__c":"Brain stem compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002196","HPO_Name__c":"Myelopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100019","HPO_Name__c":"Cortical cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009831","HPO_Synonym__c":"Single damaged nerve","HPO_Name__c":"Mononeuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009594","HPO_Name__c":"Retinal hamartoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009733","HPO_Name__c":"Glioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:637","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Ophthalmology","Otolaryngology","Anterior segment of Eye","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"]},"synonyms":["banf - bilateral acoustic neurofibromatosis"," bilateral acoustic neurofibromatosis"," familial acoustic neuroma"," familial vestibular schwannoma"," full neurofibromatosis type 2"," full nf2"," full nf2-related schwannomatosis"," neurofibromatosis 2"," neurofibromatosis type 2"," neurofibromatosis, central type"," nf2"," nf2-related schwannomatosis"," nonmosaic neurofibromatosis type 2"," nonmosaic nf2-related schwannomatosis"," schwannomatosis, vestibular"," swnv"," vestibular schwannomatosis"],"spanishId":12508,"spanishName":"neurofibromatosis-tipo-2"}