{"Name":"Branchiootic syndrome","DiseaseID__c":"GARD:0010148","id":10148,"encodedName":"branchiootic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Branchiootic syndrome","Xref_IDs__c":"764810000; C4273131; C537104; DOID:0060232; MEDGEN:1636666; MONDO:0018878; OMIMPS:602588; ORPHA:52429","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018878","Disease_Description__c":"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","GARD_Name__c":"Branchiootic syndrome","GARD_Synonym__c":"bo syndrome; bor; branchio-otic syndrome; branchiootic dysplasia","Curated_Disease_Description_Source__c":"MONDO:0018878","Curated_Disease_Description__c":"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:52429","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018878","ORPHANET_ID__c":"ORPHA:52429","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome branquio-ótico","Spanish_Description_Source__c":"ORPHA:52429","Spanish_Description__c":"El síndrome branquio-ótico es un síndrome genético de múltiples anomalías congénitas, poco frecuente, que se caracteriza por anomalías del segundo arco branquial (quistes y fístulas branquiales), malformaciones del oído externo, medio e interno asociadas a pérdida auditiva conductiva, neurosensorial o mixta y ausencia de anomalías renales. Los hallazgos típicos del oído consisten en aurículas malformadas (p. ej., orejas caídas o ahuecadas), fosas y/o papilomas preauriculares, y displasias del oído medio y/o interno (que incluyen hipoplasia de los canales coclear, vestibular y semicircular, malformación de los osículos y del oído medio).","Spanish_Disease_Name__c":"síndrome branquio-ótico","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":"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","Curated_Disease_Description_Source__c":"MONDO:0018878","GARD_Synonym__c":"bo syndrome; bor; branchio-otic syndrome; branchiootic dysplasia","Name":"Branchiootic syndrome","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":"Neonatal","Provided_By__c":"ORPHA:52429"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1865143"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010148","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1380","Source__c":"Gene Review","Xref__c":"NBK1380"},{"URL__c":"https://www.orpha.net/en/disease/detail/52429","Source__c":"C4273131; MONDO:0018878; ORPHA:52429","Xref__c":"ORPHA:52429"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS602588","Source__c":"MONDO:0018878","Xref__c":"OMIMPS:602588"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060232","Source__c":"MONDO:0018878","Xref__c":"DOID:0060232"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537104","Source__c":"MONDO:0018878","Xref__c":"C537104"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1636666","Source__c":"C4273131","Xref__c":"MEDGEN:1636666"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764810000","Source__c":"C4273131; MONDO:0018878","Xref__c":"764810000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273131","Source__c":"C4273131","Xref__c":"C4273131"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018878","Source__c":"GARD:0010148","Xref__c":"MONDO:0018878"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SIX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/six1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EYA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/eya1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000359","HPO_Synonym__c":"Abnormality of the inner ear; Inner ear abnormality","HPO_Name__c":"Abnormality of the inner ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000614","HPO_Synonym__c":"Abnormality of the nasolacrimal system","HPO_Name__c":"Abnormal nasolacrimal system morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","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:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000356","HPO_Synonym__c":"Abnormal pinnae; Abnormality of the auricle; Abnormality of the external ear; Abnormality of the outer ear; Ear anomalies; External ear malformation; External ear malformations; Malformed pinnae; Outer ear abnormality","HPO_Name__c":"Abnormality of the outer ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the morphology or structure of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008609","HPO_Synonym__c":"Middle ear malformation; Morphological abnormality of the middle ear","HPO_Name__c":"Abnormal middle ear morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or failure to form of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000413","HPO_Synonym__c":"Absent auditory canals; Absent ear canal; Absent external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia","HPO_Name__c":"Atresia of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A depression located on a lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100267","HPO_Name__c":"Lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000384","HPO_Synonym__c":"Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags","HPO_Name__c":"Preauricular skin tag","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:52429","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009795","HPO_Synonym__c":"Branchial cleft fistula","HPO_Name__c":"Branchial fistula","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["bo syndrome"," bor"," branchio-otic syndrome"," branchiootic dysplasia"]}