{"Name":"Bilateral microtia-deafness-cleft palate syndrome","DiseaseID__c":"GARD:0016966","id":16966,"encodedName":"bilateral-microtia-deafness-cleft-palate-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bilateral microtia-deafness-cleft palate syndrome","Xref_IDs__c":"C2676772; C567359; MEDGEN:382936; MONDO:0012854; OMIM:612290; ORPHA:140963","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":1,"Description_Source__c":"MONDO:0012854","Disease_Description__c":"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.","GARD_Name__c":"Bilateral microtia-deafness-cleft palate syndrome","GARD_Synonym__c":"bilateral microtia-hearing loss-cleft palate syndrome; microtia with or without hearing impairment (ad); microtia, hearing impairment, and cleft palate (ar)","Curated_Disease_Description_Source__c":"MONDO:0012854","Curated_Disease_Description__c":"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:140963","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012854","ORPHANET_ID__c":"ORPHA:140963","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microtia bilateral-sordera-paladar hendido","Spanish_Description_Source__c":"ORPHA:140963","Spanish_Description__c":"Es un síndrome de hendidura orofacial poco frecuente de origen genético caracterizado por la asociación de microtia bilateral, hipoacusia de grave a profunda y fisura palatina.","Spanish_Disease_Name__c":"síndrome de microtia bilateral-sordera-paladar hendido","Spanish_GARD_Synonym__c":"síndrome de microtia bilateral-hipoacusia-paladar hendido","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 rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.","Curated_Disease_Description_Source__c":"MONDO:0012854","GARD_Synonym__c":"bilateral microtia-hearing loss-cleft palate syndrome; microtia with or without hearing impairment (ad); microtia, hearing impairment, and cleft palate (ar)","Name":"Bilateral microtia-deafness-cleft palate syndrome","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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:140963"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/612290","Source__c":"C2676772; MONDO:0012854; ORPHA:140963","Xref__c":"OMIM:612290"},{"URL__c":"https://www.orpha.net/en/disease/detail/140963","Source__c":"C2676772; MONDO:0012854","Xref__c":"ORPHA:140963"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=382936","Source__c":"C2676772","Xref__c":"MEDGEN:382936"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2676772","Source__c":"C2676772","Xref__c":"C2676772"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567359","Source__c":"MONDO:0012854","Xref__c":"C567359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012854","Source__c":"GARD:0016966","Xref__c":"MONDO:0012854"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HOXA2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612290","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000402","HPO_Synonym__c":"External auditory canal stenosis; Narrow auditory canals; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal","HPO_Name__c":"Stenosis of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612290","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612290","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":"OMIM:612290","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The length of the incisura from the upper to lower border is greater than that observed in the average population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031229","HPO_Name__c":"Increased incisura length","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612290","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000396","HPO_Synonym__c":"Over-folded helices; Overfolded ears; Overfolded helices","HPO_Name__c":"Overfolded helix","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612290","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000410","HPO_Synonym__c":"Hearing loss, mixed; Mixed hearing impairment; Mixed hearing loss","HPO_Name__c":"Mixed hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bilateral microtia-hearing loss-cleft palate syndrome"," microtia with or without hearing impairment (ad)"," microtia, hearing impairment, and cleft palate (ar)"]}