{"Name":"Congenital laryngeal abductor palsy","DiseaseID__c":"GARD:0005509","id":5509,"encodedName":"congenital-laryngeal-abductor-palsy","IsDeleted":false,"Disease_Name_Full__c":"Congenital laryngeal abductor palsy","Xref_IDs__c":"232442001; C0396059; MEDGEN:96004; MONDO:0007876; OMIM:150260; ORPHA:2808","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2808","Disease_Description__c":"Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).","GARD_Name__c":"Congenital laryngeal abductor palsy","GARD_Synonym__c":"congenital laryngeal abductor paralysis; familial vocal cord dysfunction; gerhardt syndrome; labd; laryngeal abductor paralysis; laryngeal abductor paralysis, x-linked; vocal cord dysfunction familial","Curated_Disease_Description_Source__c":"ORPHA:2808","Curated_Disease_Description__c":"Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2808","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007876","ORPHANET_ID__c":"ORPHA:2808","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Parálisis de músculos de laringe","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"parálisis de músculos de laringe","Spanish_GARD_Synonym__c":"disfunción familiar de las cuerdas vocales; síndrome de gerhardt","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":"Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).","Curated_Disease_Description_Source__c":"ORPHA:2808","GARD_Synonym__c":"congenital laryngeal abductor paralysis; familial vocal cord dysfunction; gerhardt syndrome; labd; laryngeal abductor paralysis; laryngeal abductor paralysis, x-linked; vocal cord dysfunction familial","Name":"Congenital laryngeal abductor palsy","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":"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":"Neonatal","Provided_By__c":"ORPHA:2808"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0396059","Source__c":"C0396059","Xref__c":"C0396059"},{"URL__c":"https://www.omim.org/entry/150260","Source__c":"C0396059; MONDO:0007876; ORPHA:2808","Xref__c":"OMIM:150260"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=232442001","Source__c":"C0396059; MONDO:0007876","Xref__c":"232442001"},{"URL__c":"https://www.orpha.net/en/disease/detail/2808","Source__c":"C0396059; MONDO:0007876; ORPHA:2808","Xref__c":"ORPHA:2808"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96004","Source__c":"C0396059","Xref__c":"MEDGEN:96004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007876","Source__c":"GARD:0005509","Xref__c":"MONDO:0007876"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2808","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:2808","HPO_Frequency__c":"Frequent (30-79%)","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":["congenital laryngeal abductor paralysis"," familial vocal cord dysfunction"," gerhardt syndrome"," labd"," laryngeal abductor paralysis"," laryngeal abductor paralysis, x-linked"," vocal cord dysfunction familial"]}