{"Name":"Syndromic orbital border hypoplasia","DiseaseID__c":"GARD:0016858","id":16858,"encodedName":"syndromic-orbital-border-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Syndromic orbital border hypoplasia","Xref_IDs__c":"717337001; C1833795; C563490; MEDGEN:318965; MONDO:0008138; OMIM:165600; ORPHA:98606","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008138","Disease_Description__c":"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.","GARD_Name__c":"Syndromic orbital border hypoplasia","GARD_Synonym__c":"orbital margin, hypoplasia of; urrets-zavalia syndrome","Curated_Disease_Description_Source__c":"MONDO:0008138","Curated_Disease_Description__c":"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:98606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008138","ORPHANET_ID__c":"ORPHA:98606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia sindrómica del borde orbitario","Spanish_Description_Source__c":"ORPHA:98606","Spanish_Description__c":"La hipoplasia sindrómica del borde orbitario es un trastorno poco frecuente, observado hasta la fecha en dos familias, que se caracteriza por agenesia del margen orbitario, defectos variables de los canales lagrimales, hipoplasia de la piel palpebral y de las placas tarsales y atresia del conducto nasolagrimal.","Spanish_Disease_Name__c":"hipoplasia sindrómica del borde orbitario","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","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":"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.","Curated_Disease_Description_Source__c":"MONDO:0008138","GARD_Synonym__c":"orbital margin, hypoplasia of; urrets-zavalia syndrome","Name":"Syndromic orbital border hypoplasia","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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:98606"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318965","Source__c":"C1833795","Xref__c":"MEDGEN:318965"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563490","Source__c":"MONDO:0008138","Xref__c":"C563490"},{"URL__c":"https://www.omim.org/entry/165600","Source__c":"C1833795; MONDO:0008138; ORPHA:98606","Xref__c":"OMIM:165600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833795","Source__c":"C1833795","Xref__c":"C1833795"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717337001","Source__c":"MONDO:0008138","Xref__c":"717337001"},{"URL__c":"https://www.orpha.net/en/disease/detail/98606","Source__c":"C1833795; MONDO:0008138","Xref__c":"ORPHA:98606"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008138","Source__c":"GARD:0016858","Xref__c":"MONDO:0008138"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:165600","Feature__r":{"HPO_Description__c":"Congenital abnormality of the extraocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007647","HPO_Name__c":"Congenital extraocular muscle anomaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165600","Feature__r":{"HPO_Description__c":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000564","HPO_Synonym__c":"Imperforate nasolacrimal ducts; Nasolacrimal duct atresia; Unopened tear duct","HPO_Name__c":"Lacrimal duct atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:165600","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the lower eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000652","HPO_Synonym__c":"Cleft lower eyelid; Coloboma of lower eyelid; Full thickness defect of the lower eyelid; Lower lid coloboma; Notched lower eyelid","HPO_Name__c":"Lower eyelid coloboma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["orbital margin, hypoplasia of"," urrets-zavalia syndrome"]}