{"Name":"Familial angiolipomatosis","DiseaseID__c":"GARD:0017089","id":17089,"encodedName":"familial-angiolipomatosis","IsDeleted":false,"Disease_Name_Full__c":"Familial angiolipomatosis","Xref_IDs__c":"774066000; C1859784; C565951; MEDGEN:347235; MONDO:0008792; OMIM:206550; ORPHA:199279","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008792","Disease_Description__c":"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.","GARD_Name__c":"Familial angiolipomatosis","GARD_Synonym__c":"angiolipoma microthromboticum","Curated_Disease_Description_Source__c":"MONDO:0008792","Curated_Disease_Description__c":"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:199279","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008792","ORPHANET_ID__c":"ORPHA:199279","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Angiolipomatosis familiar","Spanish_Description_Source__c":"ORPHA:199279","Spanish_Description__c":"Es un trastorno del tejido subcutáneo, genético y poco frecuente, caracterizado por la presencia de unos tumores subcutáneos benignos, generalmente múltiples, compuestos por tejido adiposo y vasos sanguíneos. Se manifiesta típicamente con unos tumores amarillentos, firmes, circunscritos, de 1-4 cm de diámetro, ubicados en los brazos, las piernas y el tronco, con una mayor extensión de las lesiones entre los músculos, los tendones y las cápsulas articulares (sin infiltración de estas estructuras), en varios miembros de una misma familia. Los tumores pueden presentar un aumento de la sensibilidad o ser ligeramente dolorosos al tacto y no remiten espontáneamente.","Spanish_Disease_Name__c":"angiolipomatosis familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.","Curated_Disease_Description_Source__c":"MONDO:0008792","GARD_Synonym__c":"angiolipoma microthromboticum","Name":"Familial angiolipomatosis","estimateUsa":""}],"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347235","Source__c":"C1859784","Xref__c":"MEDGEN:347235"},{"URL__c":"https://www.orpha.net/en/disease/detail/199279","Source__c":"C1859784; MONDO:0008792; ORPHA:199279","Xref__c":"ORPHA:199279"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859784","Source__c":"C1859784","Xref__c":"C1859784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565951","Source__c":"MONDO:0008792","Xref__c":"C565951"},{"URL__c":"https://www.omim.org/entry/206550","Source__c":"C1859784; MONDO:0008792; ORPHA:199279","Xref__c":"OMIM:206550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774066000","Source__c":"C1859784","Xref__c":"774066000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008792","Source__c":"GARD:0017089","Xref__c":"MONDO:0008792"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:206550","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006773","HPO_Name__c":"Cutaneous angiolipomas","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["angiolipoma microthromboticum"]}