{"Name":"Van den Bosch syndrome","DiseaseID__c":"GARD:0005453","id":5453,"encodedName":"van-den-bosch-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Van den Bosch syndrome","Xref_IDs__c":"733110004; C0796192; C563129; MEDGEN:162920; MONDO:0010754; OMIM:314500","USA_Estimate__c":"1,000","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":"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010754","Disease_Description__c":"A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.","GARD_Name__c":"Van den Bosch syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0010754","Curated_Disease_Description__c":"A rare X-linked syndromic intellectual disability characterised by intellectual deficit, choroideraemia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3417","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010754","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:3417","Spanish_Description__c":"Es una discapacidad intelectual sindrómica ligada al cromosoma X poco frecuente que se caracteriza por déficit intelectual, coroideremia, nistagmo horizontal, alta miopía, anomalía cutánea similar a la acroqueratosis verruciforme, anhidrosis y escapulas aladas. No ha habido más descripciones en la literatura desde 1959.","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":"A rare X-linked syndromic intellectual disability characterised by intellectual deficit, choroideraemia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.","Curated_Disease_Description_Source__c":"MONDO:0010754","Name":"Van den Bosch syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Retina International","Website__c":"https://retina-international.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796192","Source__c":"C0796192","Xref__c":"C0796192"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733110004","Source__c":"C0796192; MONDO:0010754","Xref__c":"733110004"},{"URL__c":"https://www.omim.org/entry/314500","Source__c":"C0796192; MONDO:0010754","Xref__c":"OMIM:314500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162920","Source__c":"C0796192","Xref__c":"MEDGEN:162920"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563129","Source__c":"MONDO:0010754","Xref__c":"C563129"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010754","Source__c":"GARD:0005453","Xref__c":"MONDO:0010754"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:314500","Feature__r":{"HPO_Description__c":"Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200016","HPO_Synonym__c":"Acral keratosis","HPO_Name__c":"Acrokeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314500","Feature__r":{"HPO_Description__c":"Well-defined, pale patches in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001139","HPO_Name__c":"Chorioretinal scalloped atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314500","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314500","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:314500","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}