{"Name":"Congenital cataract-ichthyosis syndrome","DiseaseID__c":"GARD:0001145","id":1145,"encodedName":"congenital-cataract-ichthyosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital cataract-ichthyosis syndrome","Xref_IDs__c":"C1859315; C538281; MEDGEN:347122; MONDO:0008924; OMIM:212400","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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008924","Disease_Description__c":"Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.","GARD_Name__c":"Congenital cataract-ichthyosis syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0008924","Curated_Disease_Description__c":"Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008924","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":"Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0008924","Name":"Congenital cataract-ichthyosis syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347122","Source__c":"C1859315","Xref__c":"MEDGEN:347122"},{"URL__c":"https://www.omim.org/entry/212400","Source__c":"C1859315; MONDO:0008924","Xref__c":"OMIM:212400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859315","Source__c":"C1859315","Xref__c":"C1859315"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538281","Source__c":"MONDO:0008924","Xref__c":"C538281"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008924","Source__c":"GARD:0001145","Xref__c":"MONDO:0008924"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:212400","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:212400","Feature__r":{"HPO_Description__c":"An ichthyosiform abnormality of the skin with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007431","HPO_Synonym__c":"Congenital ichthyosis; Ichthyosis, congenital","HPO_Name__c":"Congenital ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}