{"Name":"Craniorhiny","DiseaseID__c":"GARD:0016984","id":16984,"encodedName":"craniorhiny","IsDeleted":false,"Disease_Name_Full__c":"Craniorhiny","Xref_IDs__c":"784350004; C1852501; C565144; MEDGEN:338944; MONDO:0007398; OMIM:123050; ORPHA:157832","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:157832","Disease_Description__c":"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.","GARD_Name__c":"Craniorhiny","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:157832","Curated_Disease_Description__c":"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:157832","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007398","ORPHANET_ID__c":"ORPHA:157832","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Craniorrinia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"craniorrinia","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 frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism.","Curated_Disease_Description_Source__c":"ORPHA:157832","Name":"Craniorhiny","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:157832"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565144","Source__c":"MONDO:0007398","Xref__c":"C565144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338944","Source__c":"C1852501","Xref__c":"MEDGEN:338944"},{"URL__c":"https://www.omim.org/entry/123050","Source__c":"C1852501; MONDO:0007398; ORPHA:157832","Xref__c":"OMIM:123050"},{"URL__c":"https://www.orpha.net/en/disease/detail/157832","Source__c":"C1852501; MONDO:0007398; ORPHA:157832","Xref__c":"ORPHA:157832"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852501","Source__c":"C1852501","Xref__c":"C1852501"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007398","Source__c":"GARD:0016984","Xref__c":"MONDO:0007398"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=784350004","Source__c":"C1852501","Xref__c":"784350004"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"]},"synonyms":[""]}