{"Name":"Neurofibroma","DiseaseID__c":"GARD:0007191","id":7191,"encodedName":"neurofibroma","IsDeleted":false,"Disease_Name_Full__c":"Neurofibroma","Xref_IDs__c":"404029005; C0027830; C3272; D009455; DOID:962; HP:0001067; MEDGEN:45058; MONDO:0016755; ORPHA:252183","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016755","Disease_Description__c":"An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.","GARD_Name__c":"Neurofibroma","GARD_Synonym__c":"benign neurofibroma; multiple neurofibromas; neurofibroma (who grade i); neurofibroma, benign; neurofibromata","Curated_Disease_Description_Source__c":"GARD:0007191","Curated_Disease_Description__c":"A Neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop Neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:252183","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016755","ORPHANET_ID__c":"ORPHA:252183","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neurofibroma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neurofibroma","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 Neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop Neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.","Curated_Disease_Description_Source__c":"GARD:0007191","GARD_Synonym__c":"benign neurofibroma; multiple neurofibromas; neurofibroma (who grade i); neurofibroma, benign; neurofibromata","Name":"Neurofibroma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Nerve Tumours UK","Website__c":"https://nervetumours.org.uk"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:252183"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0027830"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404029005","Source__c":"C0027830; MONDO:0016755","Xref__c":"404029005"},{"URL__c":"https://www.orpha.net/en/disease/detail/252183","Source__c":"C0027830; MONDO:0016755; ORPHA:252183","Xref__c":"ORPHA:252183"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009455","Source__c":"MONDO:0016755","Xref__c":"D009455"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027830","Source__c":"C0027830","Xref__c":"C0027830"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3272","Source__c":"C0027830; MONDO:0016755","Xref__c":"C3272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45058","Source__c":"C0027830","Xref__c":"MEDGEN:45058"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A962","Source__c":"MONDO:0016755","Xref__c":"DOID:962"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016755","Source__c":"GARD:0007191","Xref__c":"MONDO:0016755"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156930004","Source__c":"C0027830","Xref__c":"1156930004"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001067","Source__c":"C0027830","Xref__c":"HP:0001067"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012289","HPO_Synonym__c":"Face tumor","HPO_Name__c":"Facial neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007524","HPO_Name__c":"Atypical neurofibromatosis","Feature_System__c":"Nervous System; 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Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009732","HPO_Name__c":"Plexiform neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","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:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100013","HPO_Synonym__c":"Breast tumor; Tumours of the breast","HPO_Name__c":"Neoplasm of the breast","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000995","HPO_Synonym__c":"Beauty mark; Melanocytic naevus; Melanocytic nevi; Nevocellular nevi; Pigmented naevi; Pigmented nevi","HPO_Name__c":"Melanocytic nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003406","HPO_Name__c":"Peripheral nerve compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006851","HPO_Synonym__c":"Spinal nerve root neurofibromas, symmetric, multiple","HPO_Name__c":"Symmetric spinal nerve root neurofibromas","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012645","HPO_Name__c":"Enlarged peripheral nerve","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Subcutaneous nodules that are located in the vicinity of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007470","HPO_Name__c":"Periarticular subcutaneous nodules","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Occasional (5-29%)","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:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased size of the parotid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011801","HPO_Synonym__c":"Hyperplasia of parotid gland; Increased size of parotid gland","HPO_Name__c":"Enlargement of parotid gland","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bleeding from the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002584","HPO_Synonym__c":"Intestinal bleeding; Intestinal hemorrhage","HPO_Name__c":"Intestinal bleeding","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009735","HPO_Synonym__c":"Spinal neurofibromas","HPO_Name__c":"Spinal neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007576","HPO_Synonym__c":"Palmar neurofibromas","HPO_Name__c":"Palmar neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","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:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012440","HPO_Synonym__c":"Anomaly of the biliary tract","HPO_Name__c":"Abnormal biliary tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003416","HPO_Synonym__c":"Narrow spinal canal; Spinal stenosis","HPO_Name__c":"Spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001067","HPO_Synonym__c":"Neurofibromata; Neurofibromatosis","HPO_Name__c":"Neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A neoplasm of the trachea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100551","HPO_Synonym__c":"Tracheal neoplasm","HPO_Name__c":"Neoplasm of the trachea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010609","HPO_Synonym__c":"Acrochorda","HPO_Name__c":"Skin tags","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100527","HPO_Name__c":"Neoplasia of the pleura","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:252183","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005220","HPO_Name__c":"Multiple intestinal neurofibromatosis","Feature_System__c":"Nervous System; Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology"],"Disease Category":["Cancer","Neurology"]},"synonyms":["benign neurofibroma"," multiple neurofibromas"," neurofibroma (who grade i)"," neurofibroma, benign"," neurofibromata"]}