{"Name":"Short tarsus-absence of lower eyelashes syndrome","DiseaseID__c":"GARD:0000296","id":296,"encodedName":"short-tarsus-absence-of-lower-eyelashes-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Short tarsus-absence of lower eyelashes syndrome","Xref_IDs__c":"721075001; C1838328; C537036; MEDGEN:325001; MONDO:0010855; OMIM:600269; ORPHA:2832","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010855","Disease_Description__c":"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.","GARD_Name__c":"Short tarsus-absence of lower eyelashes syndrome","GARD_Synonym__c":"lopes gorlin syndrome; lopes-gorlin syndrome; short tarsus absence of lower eyelashes; short tarsus with absence of lower eyelashes; short tarsus with absence of lower eyelashes syndrome","Curated_Disease_Description_Source__c":"MONDO:0010855","Curated_Disease_Description__c":"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.","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:2832","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010855","ORPHANET_ID__c":"ORPHA:2832","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de párpado superior anómalo-ausencia de pestañas","Spanish_Description_Source__c":"ORPHA:2832","Spanish_Description__c":"Es un síndrome muy poco frecuente caracterizado por la asociación de los tarsos palpebrales superior e inferior finos y cortos, y por la ausencia de pestañas inferiores.","Spanish_Disease_Name__c":"síndrome de párpado superior anómalo-ausencia de pestañas","Spanish_GARD_Synonym__c":"síndrome de lopes-gorlin","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":"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.","Curated_Disease_Description_Source__c":"MONDO:0010855","GARD_Synonym__c":"lopes gorlin syndrome; lopes-gorlin syndrome; short tarsus absence of lower eyelashes; short tarsus with absence of lower eyelashes; short tarsus with absence of lower eyelashes syndrome","Name":"Short tarsus-absence of lower eyelashes syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2832"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2832"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325001","Source__c":"C1838328","Xref__c":"MEDGEN:325001"},{"URL__c":"https://www.omim.org/entry/600269","Source__c":"C1838328; MONDO:0010855; ORPHA:2832","Xref__c":"OMIM:600269"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721075001","Source__c":"C1838328; MONDO:0010855","Xref__c":"721075001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838328","Source__c":"C1838328","Xref__c":"C1838328"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537036","Source__c":"MONDO:0010855","Xref__c":"C537036"},{"URL__c":"https://www.orpha.net/en/disease/detail/2832","Source__c":"C1838328; MONDO:0010855; ORPHA:2832","Xref__c":"ORPHA:2832"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010855","Source__c":"GARD:0000296","Xref__c":"MONDO:0010855"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600269","Feature__r":{"HPO_Description__c":"Underdevelopment of the lower eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007697","HPO_Synonym__c":"Decreased size of lower eyelid; Underdevelopment of lower eyelid","HPO_Name__c":"Hypoplasia of the lower eyelids","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600269","Feature__r":{"HPO_Description__c":"Lack of eyelashes on the lower lid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007646","HPO_Synonym__c":"Absent lower eyelashes; Atrichia of lower eyelashes; Failure of development of lower eyelashes","HPO_Name__c":"Absent lower eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["lopes gorlin syndrome"," lopes-gorlin syndrome"," short tarsus absence of lower eyelashes"," short tarsus with absence of lower eyelashes"," short tarsus with absence of lower eyelashes syndrome"]}