{"Name":"Angioma serpiginosum","DiseaseID__c":"GARD:0015021","id":15021,"encodedName":"angioma-serpiginosum","IsDeleted":false,"Disease_Name_Full__c":"Angioma serpiginosum","Xref_IDs__c":"49465005; C0263637; C3926; DOID:4028; MEDGEN:75528; MONDO:0019803; ORPHA:95429","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019803","Disease_Description__c":"A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.","GARD_Name__c":"Angioma serpiginosum","GARD_Synonym__c":"angioma serpiginosum of skin","Curated_Disease_Description_Source__c":"ORPHA:95429","Curated_Disease_Description__c":"A benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:95429","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019803","ORPHANET_ID__c":"ORPHA:95429","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Angioma serpiginoso","Spanish_Description_Source__c":"ORPHA:95429","Spanish_Description__c":"Es una enfermedad de la piel congénita y benigna caracterizada por la dilatación progresiva de los vasos cutáneos subepidérmicos que se manifiesta como lesiones punteadas de color púrpura que generalmente aparecen en las extremidades inferiores y las nalgas siguiendo las líneas de Blaschko.","Spanish_Disease_Name__c":"angioma serpiginoso","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":"A benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.","Curated_Disease_Description_Source__c":"ORPHA:95429","GARD_Synonym__c":"angioma serpiginosum of skin","Name":"Angioma serpiginosum","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:95429"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49465005","Source__c":"C0263637; MONDO:0019803","Xref__c":"49465005"},{"URL__c":"https://www.orpha.net/en/disease/detail/95429","Source__c":"C0263637; MONDO:0019803; ORPHA:95429","Xref__c":"ORPHA:95429"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263637","Source__c":"C0263637","Xref__c":"C0263637"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3926","Source__c":"C0263637; MONDO:0019803","Xref__c":"C3926"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4028","Source__c":"MONDO:0019803","Xref__c":"DOID:4028"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75528","Source__c":"C0263637","Xref__c":"MEDGEN:75528"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019803","Source__c":"GARD:0015021","Xref__c":"MONDO:0019803"}],"Inheritance__c":["Autosomal dominant","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:95429","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of development abnormalities of retinal blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007797","HPO_Synonym__c":"Retinal vascular malformation","HPO_Name__c":"Developmental retinal vascular malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95429","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["angioma serpiginosum of skin"]}