{"Name":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","DiseaseID__c":"GARD:0011006","id":11006,"encodedName":"painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","Xref_IDs__c":"C4751109; MEDGEN:1650687; MONDO:0017585; ORPHA:300501","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:300501","Disease_Description__c":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.","GARD_Name__c":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","GARD_Synonym__c":"painful orbital and systemic neurofibroma, marfanoid habitus syndrome","Curated_Disease_Description_Source__c":"ORPHA:300501","Curated_Disease_Description__c":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:300501","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017585","ORPHANET_ID__c":"ORPHA:300501","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dolor orbital y neurofibromas sistémicos-hábito marfanoide","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de dolor orbital y neurofibromas sistémicos-hábito marfanoide","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":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia, and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.","Curated_Disease_Description_Source__c":"ORPHA:300501","GARD_Synonym__c":"painful orbital and systemic neurofibroma, marfanoid habitus syndrome","Name":"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:300501"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751109","Source__c":"C4751109","Xref__c":"C4751109"},{"URL__c":"https://www.orpha.net/en/disease/detail/300501","Source__c":"C4751109; MONDO:0017585; ORPHA:300501","Xref__c":"ORPHA:300501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1650687","Source__c":"C4751109","Xref__c":"MEDGEN:1650687"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773642001","Source__c":"C4751109","Xref__c":"773642001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017585","Source__c":"GARD:0011006","Xref__c":"MONDO:0017585"}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["painful orbital and systemic neurofibroma, marfanoid habitus syndrome"]}