{"Name":"Congenital laryngeal web","DiseaseID__c":"GARD:0016596","id":16596,"encodedName":"congenital-laryngeal-web","IsDeleted":false,"Disease_Name_Full__c":"Congenital laryngeal web","Xref_IDs__c":"444921008; C1835494; C537676; C563636; C98970; MEDGEN:372058; MONDO:0007880; OMIM:150360; ORPHA:2374","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007880","Disease_Description__c":"A rare laryngeal malformation characterized by a membrane-like structure of variable thickness that extends across the laryngeal lumen, between the vocal cords.","GARD_Name__c":"Congenital laryngeal web","GARD_Synonym__c":"glottic web, congenital anterior; laryngeal web; laryngeal web, familial; subglottic bar; subglottic web","Curated_Disease_Description_Source__c":"ORPHA:2374","Curated_Disease_Description__c":"A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.","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:2374","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007880","ORPHANET_ID__c":"ORPHA:2374","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Membrana laríngea congénita aislada","Spanish_Description_Source__c":"ORPHA:2374","Spanish_Description__c":"Es una malformación laríngea poco frecuente caracterizada por una estructura similar a una membrana de espesor variable que se extiende a través de la luz laríngea entre las cuerdas vocales.","Spanish_Disease_Name__c":"membrana laríngea congénita aislada","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":"A rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.","Curated_Disease_Description_Source__c":"ORPHA:2374","GARD_Synonym__c":"glottic web, congenital anterior; laryngeal web; laryngeal web, familial; subglottic bar; subglottic web","Name":"Congenital laryngeal web","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":"Infancy","Provided_By__c":"ORPHA:2374"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2374"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/150360","Source__c":"C1835494; MONDO:0007880; ORPHA:2374","Xref__c":"OMIM:150360"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98970","Source__c":"MONDO:0007880","Xref__c":"C98970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537676","Source__c":"MONDO:0007880","Xref__c":"C537676"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835494","Source__c":"C1835494","Xref__c":"C1835494"},{"URL__c":"https://www.orpha.net/en/disease/detail/2374","Source__c":"C1835494; MONDO:0007880","Xref__c":"ORPHA:2374"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=444921008","Source__c":"MONDO:0007880","Xref__c":"444921008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=372058","Source__c":"C1835494","Xref__c":"MEDGEN:372058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563636","Source__c":"MONDO:0007880","Xref__c":"C563636"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007880","Source__c":"GARD:0016596","Xref__c":"MONDO:0007880"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2374","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2374","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:2374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the intra-atrial or intraventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001671","HPO_Synonym__c":"Abnormality of the cardiac septa; Heart septal defect; Septal defects","HPO_Name__c":"Abnormal cardiac septum morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2374","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2374","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["glottic web, congenital anterior"," laryngeal web"," laryngeal web, familial"," subglottic bar"," subglottic web"]}