{"Name":"Congenital laryngomalacia","DiseaseID__c":"GARD:0006865","id":6865,"encodedName":"congenital-laryngomalacia","IsDeleted":false,"Disease_Name_Full__c":"Congenital laryngomalacia","Xref_IDs__c":"253737007; C0264303; C98971; D055092; DOID:0080833; MEDGEN:120500; MONDO:0007878; OMIM:150280; ORPHA:2373; Q31.5","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007878","Disease_Description__c":"Increased collapsibility of the larynx.","GARD_Name__c":"Congenital laryngomalacia","GARD_Synonym__c":"laryngomalacia; softening of voice box tissue","Curated_Disease_Description_Source__c":"GARD:0006865","Curated_Disease_Description__c":"Congenital laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. In more severe cases, symptoms may include difficulty breathing with the chest pulling inward (retraction), poor weight gain from difficulty feeding, apnea, and cyanosis. The underlying cause of the condition is unknown. Most cases occur sporadically in people with no family history of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2373","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007878","ORPHANET_ID__c":"ORPHA:2373","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Laringomalacia dominante congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"laringomalacia dominante congénita","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98036","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":"Congenital laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. In more severe cases, symptoms may include difficulty breathing with the chest pulling inward (retraction), poor weight gain from difficulty feeding, apnea, and cyanosis. The underlying cause of the condition is unknown. Most cases occur sporadically in people with no family history of the condition.","Curated_Disease_Description_Source__c":"GARD:0006865","GARD_Synonym__c":"laryngomalacia; softening of voice box tissue","Name":"Congenital laryngomalacia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vivendo com Laringomalácia","Website__c":"https://www.laringomalacia.org"},{"Account_Name__c":"Coping With Laryngomalacia, Inc","Website__c":"https://www.copingwithlm.org/"},{"Account_Name__c":"Cure TBM","Website__c":"https://www.curetbm.org/"}],"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":"Infancy","Provided_By__c":"ORPHA:2373"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2373"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055092","Source__c":"C0264303; MONDO:0007878","Xref__c":"D055092"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q31.5","Source__c":"MONDO:0007878","Xref__c":"Q31.5"},{"URL__c":"https://www.omim.org/entry/150280","Source__c":"C0264303; MONDO:0007878; ORPHA:2373","Xref__c":"OMIM:150280"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120500","Source__c":"C0264303","Xref__c":"MEDGEN:120500"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0264303","Source__c":"C0264303","Xref__c":"C0264303"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253737007","Source__c":"MONDO:0007878","Xref__c":"253737007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080833","Source__c":"MONDO:0007878","Xref__c":"DOID:0080833"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98971","Source__c":"C0264303; MONDO:0007878","Xref__c":"C98971"},{"URL__c":"https://www.orpha.net/en/disease/detail/2373","Source__c":"C0264303; MONDO:0007878","Xref__c":"ORPHA:2373"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001601","Source__c":"C0264303","Xref__c":"HP:0001601"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=38086007","Source__c":"C0264303","Xref__c":"38086007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007878","Source__c":"GARD:0006865","Xref__c":"MONDO:0007878"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2373","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:2373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100335","HPO_Synonym__c":"Non-midline cleft of the upper lip; Paramedian cleft of the upper lip","HPO_Name__c":"Non-midline cleft of the upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2373","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["laryngomalacia"," softening of voice box tissue"]}