{"Name":"Thymic-renal-anal-lung dysplasia","DiseaseID__c":"GARD:0005202","id":5202,"encodedName":"thymic-renal-anal-lung-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Thymic-renal-anal-lung dysplasia","Xref_IDs__c":"723555007; C1848812; C536907; MEDGEN:336425; MONDO:0010129; OMIM:274265; ORPHA:3326","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010129","Disease_Description__c":"This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.","GARD_Name__c":"Thymic-renal-anal-lung dysplasia","GARD_Synonym__c":"thymic, renal, anal, lung dysplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0010129","Curated_Disease_Description__c":"This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:3326","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010129","ORPHANET_ID__c":"ORPHA:3326","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de timo-riñón-ano-pulmón","Spanish_Description_Source__c":"ORPHA:3326","Spanish_Description__c":"Es un síndrome caracterizado por retraso del crecimiento intrauterino, disgenesia renal y timo unilobulado o ausente.","Spanish_Disease_Name__c":"displasia de timo-riñón-ano-pulmón","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":"This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.","Curated_Disease_Description_Source__c":"MONDO:0010129","GARD_Synonym__c":"thymic, renal, anal, lung dysplasia syndrome","Name":"Thymic-renal-anal-lung dysplasia","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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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:3326"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3326"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536907","Source__c":"MONDO:0010129","Xref__c":"C536907"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848812","Source__c":"C1848812","Xref__c":"C1848812"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723555007","Source__c":"C1848812; MONDO:0010129","Xref__c":"723555007"},{"URL__c":"https://www.omim.org/entry/274265","Source__c":"C1848812; MONDO:0010129; ORPHA:3326","Xref__c":"OMIM:274265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336425","Source__c":"C1848812","Xref__c":"MEDGEN:336425"},{"URL__c":"https://www.orpha.net/en/disease/detail/3326","Source__c":"C1848812; MONDO:0010129; ORPHA:3326","Xref__c":"ORPHA:3326"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010129","Source__c":"GARD:0005202","Xref__c":"MONDO:0010129"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"A developmental anomaly of the ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008631","HPO_Name__c":"Ureteral dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"Failure of the ureter to undergo development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012300","HPO_Name__c":"Ureteral agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:274265","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["thymic, renal, anal, lung dysplasia syndrome"]}