{"Name":"Neurofibromatosis","DiseaseID__c":"GARD:0010420","id":10420,"encodedName":"neurofibromatosis","IsDeleted":false,"Disease_Name_Full__c":"Neurofibromatosis","Xref_IDs__c":"19133005; 81669005; C0162678; C6727; D017253; DOID:8712; MEDGEN:58149; MONDO:0021061; Q85.0","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":4,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0021061","Disease_Description__c":"A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.","GARD_Name__c":"Neurofibromatosis","GARD_Synonym__c":"acoustic neurofibromatosis; central neurofibromatosis; clinical neurofibromatosis; multiple neurofibromatosis; neurofibromatosis syndrome; nf - neurofibromatosis; peripheral neurofibromatosis; recklinghausen's neurofibromatosis; type iv neurofibromatosis of riccardi; von reklinghausen disease","Curated_Disease_Description_Source__c":"GARD:0010420","Curated_Disease_Description__c":"Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of Neurofibromatosis that are each associated with unique signs and symptoms Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0021061","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of Neurofibromatosis that are each associated with unique signs and symptoms Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0010420","GARD_Synonym__c":"acoustic neurofibromatosis; central neurofibromatosis; clinical neurofibromatosis; multiple neurofibromatosis; neurofibromatosis syndrome; nf - neurofibromatosis; peripheral neurofibromatosis; recklinghausen's neurofibromatosis; type iv neurofibromatosis of riccardi; von reklinghausen disease","Name":"Neurofibromatosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"NF Collective","Website__c":"https://nfcollective.org/"},{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"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":"Children's Tumor Foundation","Website__c":"https://www.ctf.org/"},{"Account_Name__c":"Neurofibromatosis Network","Website__c":"https://www.nfnetwork.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/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162678"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8712","Source__c":"MONDO:0021061","Xref__c":"DOID:8712"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=58149","Source__c":"C0162678","Xref__c":"MEDGEN:58149"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6727","Source__c":"C0162678; MONDO:0021061","Xref__c":"C6727"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017253","Source__c":"C0162678; MONDO:0021061","Xref__c":"D017253"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162678","Source__c":"C0162678","Xref__c":"C0162678"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=19133005","Source__c":"C0162678; MONDO:0021061","Xref__c":"19133005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021061","Source__c":"GARD:0010420","Xref__c":"MONDO:0021061"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q85.0","Source__c":"MONDO:0021061","Xref__c":"Q85.0"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81669005","Source__c":"C0162678","Xref__c":"81669005"},{"URL__c":"https://www.ctf.org/wp-content/uploads/2024/01/CTF_FDA_Listening_Session_June_1319-1.pdf"},{"URL__c":"https://www.genome.gov/Genetic-Disorders/Neurofibromatosis"},{"URL__c":"https://medlineplus.gov/neurofibromatosis.html"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/neurofibromatosis"}],"Inheritance__c":["Autosomal dominant"],"tags":{},"synonyms":["acoustic neurofibromatosis"," central neurofibromatosis"," clinical neurofibromatosis"," multiple neurofibromatosis"," neurofibromatosis syndrome"," nf - neurofibromatosis"," peripheral neurofibromatosis"," recklinghausen's neurofibromatosis"," type iv neurofibromatosis of riccardi"," von reklinghausen disease"],"spanishId":12506,"spanishName":"neurofibromatosis"}