{"Name":"Bardet-Biedl syndrome 11","DiseaseID__c":"GARD:0010210","id":10210,"encodedName":"bardet-biedl-syndrome-11","IsDeleted":false,"Disease_Name_Full__c":"Bardet-Biedl syndrome 11","Xref_IDs__c":"C1859569; C565920; DOID:0110133; MEDGEN:395295; MONDO:0014439; OMIM:615988","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0014439","Disease_Description__c":"Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.","GARD_Name__c":"Bardet-Biedl syndrome 11","GARD_Synonym__c":"bardet-biedl syndrome caused by mutation in trim32; bardet-biedl syndrome type 11; bbs11; trim32 bardet-biedl syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1859569","Curated_Disease_Description__c":"Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:615988","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014439","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.","Curated_Disease_Description_Source__c":"MEDGEN:C1859569","GARD_Synonym__c":"bardet-biedl syndrome caused by mutation in trim32; bardet-biedl syndrome type 11; bbs11; trim32 bardet-biedl syndrome","Name":"Bardet-Biedl syndrome 11","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bardet-Biedl Syndrome Foundation & Family Association","Website__c":"https://www.bardetbiedl.org"},{"Account_Name__c":"Bardet-Biedl Syndrome UK","Website__c":"https://bbsuk.org.uk"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859569"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010210","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565920","Source__c":"MONDO:0014439","Xref__c":"C565920"},{"URL__c":"https://www.omim.org/entry/615988","Source__c":"C1859569; MONDO:0014439","Xref__c":"OMIM:615988"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395295","Source__c":"C1859569","Xref__c":"MEDGEN:395295"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859569","Source__c":"C1859569","Xref__c":"C1859569"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110133","Source__c":"MONDO:0014439","Xref__c":"DOID:0110133"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014439","Source__c":"GARD:0010210","Xref__c":"MONDO:0014439"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIM32","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615988","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615988","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615988","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615988","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615988","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010442","HPO_Synonym__c":"More than five fingers or toes on hands or feet","HPO_Name__c":"Polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["bardet-biedl syndrome caused by mutation in trim32"," bardet-biedl syndrome type 11"," bbs11"," trim32 bardet-biedl syndrome"]}