{"Name":"Laryngeal atresia","DiseaseID__c":"GARD:0003194","id":3194,"encodedName":"laryngeal-atresia","IsDeleted":false,"Disease_Name_Full__c":"Laryngeal atresia","Xref_IDs__c":"64981002; C0265756; C563637; C98972; HP:0008750; MEDGEN:78572; MONDO:0007879; OMIM:150300; ORPHA:1202","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007879","Disease_Description__c":"A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.","GARD_Name__c":"Laryngeal atresia","GARD_Synonym__c":"atresia of larynx; congenital atresia of larynx; congenital atresia of the larynx; larynx atresia","Curated_Disease_Description_Source__c":"MONDO:0007879","Curated_Disease_Description__c":"A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1202","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007879","ORPHANET_ID__c":"ORPHA:1202","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia de laringe","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atresia de laringe","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 congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.","Curated_Disease_Description_Source__c":"MONDO:0007879","GARD_Synonym__c":"atresia of larynx; congenital atresia of larynx; congenital atresia of the larynx; larynx atresia","Name":"Laryngeal atresia","estimateUsa":""}],"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1202"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1202","Source__c":"C0265756; MONDO:0007879; ORPHA:1202","Xref__c":"ORPHA:1202"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78572","Source__c":"C0265756","Xref__c":"MEDGEN:78572"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265756","Source__c":"C0265756","Xref__c":"C0265756"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563637","Source__c":"MONDO:0007879","Xref__c":"C563637"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=64981002","Source__c":"C0265756; MONDO:0007879","Xref__c":"64981002"},{"URL__c":"https://www.omim.org/entry/150300","Source__c":"MONDO:0007879; ORPHA:1202","Xref__c":"OMIM:150300"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98972","Source__c":"C0265756; MONDO:0007879","Xref__c":"C98972"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007879","Source__c":"GARD:0003194","Xref__c":"MONDO:0007879"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0008750","Source__c":"C0265756","Xref__c":"HP:0008750"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001601","HPO_Synonym__c":"Softening of voice box tissue","HPO_Name__c":"Laryngomalacia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1202","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["atresia of larynx"," congenital atresia of larynx"," congenital atresia of the larynx"," larynx atresia"]}