{"Name":"Median nodule of the upper lip","DiseaseID__c":"GARD:0003440","id":3440,"encodedName":"median-nodule-of-the-upper-lip","IsDeleted":false,"Disease_Name_Full__c":"Median nodule of the upper lip","Xref_IDs__c":"722034006; C1835396; MEDGEN:372034; MONDO:0007904; OMIM:151630; ORPHA:2699","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007904","Disease_Description__c":"A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.","GARD_Name__c":"Median nodule of the upper lip","GARD_Synonym__c":"lip, median nodule of upper; median nodule of upper lip","Curated_Disease_Description_Source__c":"MONDO:0007904","Curated_Disease_Description__c":"A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2699","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007904","ORPHANET_ID__c":"ORPHA:2699","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nódulo mediano del labio superior","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"nódulo mediano del labio superior","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.","Curated_Disease_Description_Source__c":"MONDO:0007904","GARD_Synonym__c":"lip, median nodule of upper; median nodule of upper lip","Name":"Median nodule of the upper lip","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2699"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2699"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372034","Source__c":"C1835396","Xref__c":"MEDGEN:372034"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722034006","Source__c":"C1835396; MONDO:0007904","Xref__c":"722034006"},{"URL__c":"https://www.orpha.net/en/disease/detail/2699","Source__c":"C1835396; MONDO:0007904; ORPHA:2699","Xref__c":"ORPHA:2699"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835396","Source__c":"C1835396","Xref__c":"C1835396"},{"URL__c":"https://www.omim.org/entry/151630","Source__c":"C1835396; MONDO:0007904; ORPHA:2699","Xref__c":"OMIM:151630"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007904","Source__c":"GARD:0003440","Xref__c":"MONDO:0007904"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:151630","Feature__r":{"HPO_Description__c":"An abnormality of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000153","HPO_Synonym__c":"Abnormal mouth; Abnormality of the mouth","HPO_Name__c":"Abnormality of the mouth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Otolaryngology","Pediatrics"]},"synonyms":["lip, median nodule of upper"," median nodule of upper lip"]}