{"Name":"Bardet-Biedl syndrome 10","DiseaseID__c":"GARD:0010209","id":10209,"encodedName":"bardet-biedl-syndrome-10","IsDeleted":false,"Disease_Name_Full__c":"Bardet-Biedl syndrome 10","Xref_IDs__c":"C1859568; C565919; DOID:0110132; MEDGEN:347909; MONDO:0014438; OMIM:615987","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:0014438","Disease_Description__c":"Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.","GARD_Name__c":"Bardet-Biedl syndrome 10","GARD_Synonym__c":"bardet-biedl syndrome caused by mutation in bbs10; bardet-biedl syndrome type 10; bbs10; bbs10 bardet-biedl syndrome","Curated_Disease_Description_Source__c":"MEDGEN:C1859568","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:615987","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014438","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:C1859568","GARD_Synonym__c":"bardet-biedl syndrome caused by mutation in bbs10; bardet-biedl syndrome type 10; bbs10; bbs10 bardet-biedl syndrome","Name":"Bardet-Biedl syndrome 10","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:C1859568"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010209","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347909","Source__c":"C1859568","Xref__c":"MEDGEN:347909"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565919","Source__c":"MONDO:0014438","Xref__c":"C565919"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110132","Source__c":"MONDO:0014438","Xref__c":"DOID:0110132"},{"URL__c":"https://www.omim.org/entry/615987","Source__c":"C1859568; MONDO:0014438","Xref__c":"OMIM:615987"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859568","Source__c":"C1859568","Xref__c":"C1859568"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014438","Source__c":"GARD:0010209","Xref__c":"MONDO:0014438"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BBS10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bbs10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615987","HPO_Frequency__c":"Very frequent (80-99%)","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:615987","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615987","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615987","Feature__r":{"HPO_Description__c":"A fluid filled sac in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000107","HPO_Synonym__c":"Kidney cyst","HPO_Name__c":"Renal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615987","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615987","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:615987","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":"OMIM:615987","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615987","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["bardet-biedl syndrome caused by mutation in bbs10"," bardet-biedl syndrome type 10"," bbs10"," bbs10 bardet-biedl syndrome"]}