{"Name":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","DiseaseID__c":"GARD:0019882","id":19882,"encodedName":"intractable-diarrhea-choanal-atresia-eye-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","Xref_IDs__c":"C4304307; MEDGEN:929976; MONDO:0015295; ORPHA:137622","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015295","Disease_Description__c":"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.","GARD_Name__c":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","GARD_Synonym__c":"intractable diarrhea with choanal atresia and eye anomaly syndrome","Curated_Disease_Description_Source__c":"ORPHA:137622","Curated_Disease_Description__c":"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.","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:137622","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015295","ORPHANET_ID__c":"ORPHA:137622","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de diarrea intratable-atresia coanal-anomalías en los ojos","Spanish_Description_Source__c":"ORPHA:137622","Spanish_Description__c":"Este síndrome se caracteriza por la asociación de diarrea infantil intratable y atresia coanal. Aparecen también descritos: estatura baja, raíz nasal ancha y prominente, micrognatia, pliegue palmar único, inflamación crónica de la córnea, citopenia y textura anormal del cabello. Hasta el momento, el síndrome ha sido descrito en tres niños de la misma familia. La inteligencia normal y la ausencia de deficiencia inmunitaria permitieron distinguirlo de otros síndromes de diarrea infantil intratable descritos anteriormente.","Spanish_Disease_Name__c":"síndrome de diarrea intratable-atresia coanal-anomalías en los ojos","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":"Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.","Curated_Disease_Description_Source__c":"ORPHA:137622","GARD_Synonym__c":"intractable diarrhea with choanal atresia and eye anomaly syndrome","Name":"Intractable diarrhea-choanal atresia-eye anomalies 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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"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:137622"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:137622"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304307","Source__c":"C4304307","Xref__c":"C4304307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929976","Source__c":"C4304307","Xref__c":"MEDGEN:929976"},{"URL__c":"https://www.orpha.net/en/disease/detail/137622","Source__c":"C4304307; MONDO:0015295; ORPHA:137622","Xref__c":"ORPHA:137622"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720009004","Source__c":"C4304307","Xref__c":"720009004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015295","Source__c":"GARD:0019882","Xref__c":"MONDO:0015295"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Otolaryngology","Pediatrics"]},"synonyms":["intractable diarrhea with choanal atresia and eye anomaly syndrome"]}