{"Name":"Melnick-Fraser syndrome","DiseaseID__c":"GARD:0010147","id":10147,"encodedName":"melnick-fraser-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Melnick-Fraser syndrome","Xref_IDs__c":"290006; C0265234; C98983; D019280; DOID:14702; MEDGEN:82693; MONDO:0007029; OMIMPS:113650; ORPHA:107","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007029","Disease_Description__c":"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).","GARD_Name__c":"Melnick-Fraser syndrome","GARD_Synonym__c":"bor; bor syndrome; branchio-oto-renal syndrome; branchio-otorenal dysplasia; branchiootorenal dysplasia; branchiootorenal syndrome","Curated_Disease_Description_Source__c":"GARD:0010147","Curated_Disease_Description__c":"BOR syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by genetic changes in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:107","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007029","ORPHANET_ID__c":"ORPHA:107","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome bor","Spanish_Description_Source__c":"ORPHA:107","Spanish_Description__c":"Es un síndrome poco frecuente de displasia otomandibular caracterizado por anomalías del arco branquial (hendiduras branquiales, fístulas, quistes), malformaciones del oído asociadas con deficiencia auditiva (malformaciones del pabellón auricular con hoyuelos preauriculares e hipoacusia conductiva o neurosensorial) y malformaciones renales (malformación del árbol urinario, hipoplasia o agenesia renal, displasia renal y quistes renales).","Spanish_Disease_Name__c":"síndrome bor","Spanish_GARD_Synonym__c":"síndrome branquio-oto-renal; síndrome de melnick-fraser; trastorno del espectro branquio-oto-renal","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":"BOR syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by genetic changes in the EYA1, SIX1, or SIX5 genes. It is passed through families in an autosomal dominant fashion.","Curated_Disease_Description_Source__c":"GARD:0010147","GARD_Synonym__c":"bor; bor syndrome; branchio-oto-renal syndrome; branchio-otorenal dysplasia; branchiootorenal dysplasia; branchiootorenal syndrome","Name":"Melnick-Fraser syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Association of Kidney Patients","Website__c":"https://www.aakp.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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Childhood","Provided_By__c":"ORPHA:107"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:107"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:107"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:107"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265234"},{"Type__c":"GTR","Curie__c":"MEDGEN:CN043574"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010147","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1380","Source__c":"Gene Review","Xref__c":"NBK1380"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=290006","Source__c":"C0265234; MONDO:0007029","Xref__c":"290006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82693","Source__c":"C0265234","Xref__c":"MEDGEN:82693"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265234","Source__c":"C0265234","Xref__c":"C0265234"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98983","Source__c":"C0265234; MONDO:0007029","Xref__c":"C98983"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C019280","Source__c":"C0265234; MONDO:0007029","Xref__c":"D019280"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS113650","Source__c":"MONDO:0007029","Xref__c":"OMIMPS:113650"},{"URL__c":"https://www.orpha.net/en/disease/detail/107","Source__c":"C0265234; MONDO:0007029; ORPHA:107","Xref__c":"ORPHA:107"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14702","Source__c":"MONDO:0007029","Xref__c":"DOID:14702"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007029","Source__c":"GARD:0010147","Xref__c":"MONDO:0007029"}],"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":"SIX5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/six5","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:107","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:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage of urine flow from the renal pelvis to the proximal ureter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000074","HPO_Synonym__c":"Pelviureteric junction obstruction; Ureteropelvic junction stenosis","HPO_Name__c":"Ureteropelvic junction obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040106","HPO_Synonym__c":"Morphological abnormality of the horizontal semicircular canal; Morphological abnormality of the lateral semicircular canal","HPO_Name__c":"Abnormal lateral semicircular canal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the middle ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000370","HPO_Synonym__c":"Middle ear abnormalities; Middle ear abnormality","HPO_Name__c":"Abnormality of the middle ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","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:107","HPO_Frequency__c":"Occasional (5-29%)","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:107","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:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A goiter that is not associated with functional thyroid abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009798","HPO_Name__c":"Euthyroid goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000003","HPO_Synonym__c":"Multicystic dysplastic kidney; Multicystic kidneys; Multicystic renal dysplasia","HPO_Name__c":"Multicystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000076","HPO_Synonym__c":"Ureteral reflux; Ureteric reflux; Vesico-ureteral reflux; Vesicoureteric reflux; VUR","HPO_Name__c":"Vesicoureteral reflux","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:107","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":"ORPHA:107","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:107","HPO_Frequency__c":"Occasional (5-29%)","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:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100274","HPO_Name__c":"Gustatory lacrimation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Very frequent (80-99%)","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:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100272","HPO_Synonym__c":"Branchial cleft sinus","HPO_Name__c":"Branchial sinus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","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:107","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011388","HPO_Synonym__c":"Dilated cochlear aqueduct","HPO_Name__c":"Enlarged cochlear aqueduct","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the vestibular aqueduct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011387","HPO_Synonym__c":"Dilated vestibular aqueduct; Widened vestibular aqueduct","HPO_Name__c":"Enlarged vestibular aqueduct","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect resulting in absence of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007925","HPO_Synonym__c":"Absent tear duct","HPO_Name__c":"Lacrimal duct aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009796","HPO_Synonym__c":"Branchial cysts","HPO_Name__c":"Branchial cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","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:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011395","HPO_Synonym__c":"Absent/small cochlea; Absent/underdeveloped cochlea","HPO_Name__c":"Aplasia/Hypoplasia of the cochlea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Congenital developmental defect arising from the primitive branchial apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009794","HPO_Synonym__c":"Abnormality of branchial apparatus; Abnormality of branchial arch; Branchial abnormality; Branchial anomalies","HPO_Name__c":"Branchial anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","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:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011481","HPO_Synonym__c":"Abnormality of the lacrimal canaliculus; Abnormality of the lacrimal duct","HPO_Name__c":"Abnormal lacrimal duct morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the cochlea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008586","HPO_Synonym__c":"Hypoplastic cochlea; Underdeveloped cochlea","HPO_Name__c":"Hypoplasia of the cochlea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100581","HPO_Synonym__c":"Caliceal dilatation; Caliectasis","HPO_Name__c":"Dilatation of renal calices","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004452","HPO_Synonym__c":"Malformed ossicles; Ossicular malformation","HPO_Name__c":"Abnormality of the middle ear ossicles","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:107","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:107","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000394","HPO_Name__c":"Lop ear","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Nephrology","Craniofacial Anomalies"]},"synonyms":["bor"," bor syndrome"," branchio-oto-renal syndrome"," branchio-otorenal dysplasia"," branchiootorenal dysplasia"," branchiootorenal syndrome"]}