{"Name":"Congenital trigeminal anesthesia","DiseaseID__c":"GARD:0010034","id":10034,"encodedName":"congenital-trigeminal-anesthesia","IsDeleted":false,"Disease_Name_Full__c":"Congenital trigeminal anesthesia","Xref_IDs__c":"763218005; C1852541; C536440; MEDGEN:342259; MONDO:0007384; OMIM:122450; ORPHA:231013","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007384","Disease_Description__c":"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).","GARD_Name__c":"Congenital trigeminal anesthesia","GARD_Synonym__c":"trigeminal anesthesia, familial","Curated_Disease_Description_Source__c":"MONDO:0007384","Curated_Disease_Description__c":"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231013","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007384","ORPHANET_ID__c":"ORPHA:231013","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anestesia congénita del nervio trigémino","Spanish_Description_Source__c":"ORPHA:231013","Spanish_Description__c":"La anestesia trigeminal congénita es un trastorno neuro-oftalmológico poco frecuente caracterizado por una deficiencia sensorial congénita que afecta a todos o a algunos de los componentes sensoriales del nervio trigémino. Debido a la anestesia corneal, por lo general se presenta con infecciones oculares indoloras recurrentes, opacidades corneales indoloras y/o lesiones ulcerosas de pobre curación en la piel del rostro y mucosas (por lo general, en la mucosa bucal y/o el septo nasal).","Spanish_Disease_Name__c":"anestesia congénita del nervio trigémino","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).","Curated_Disease_Description_Source__c":"MONDO:0007384","GARD_Synonym__c":"trigeminal anesthesia, familial","Name":"Congenital trigeminal anesthesia","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:231013"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231013"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1852541"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763218005","Source__c":"C1852541; MONDO:0007384","Xref__c":"763218005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536440","Source__c":"MONDO:0007384","Xref__c":"C536440"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342259","Source__c":"C1852541","Xref__c":"MEDGEN:342259"},{"URL__c":"https://www.orpha.net/en/disease/detail/231013","Source__c":"C1852541; MONDO:0007384; ORPHA:231013","Xref__c":"ORPHA:231013"},{"URL__c":"https://www.omim.org/entry/122450","Source__c":"C1852541; MONDO:0007384; ORPHA:231013","Xref__c":"OMIM:122450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852541","Source__c":"C1852541","Xref__c":"C1852541"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007384","Source__c":"GARD:0010034","Xref__c":"MONDO:0007384"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["trigeminal anesthesia, familial"]}