{"Name":"Hydroa vacciniforme","DiseaseID__c":"GARD:0009654","id":9654,"encodedName":"hydroa-vacciniforme","IsDeleted":false,"Disease_Name_Full__c":"Hydroa vacciniforme","Xref_IDs__c":"200837006; C0020241; C84766; D006837; HP:0032381; MEDGEN:5661; MONDO:0018024; ORPHA:330058","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018024","Disease_Description__c":"A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.","GARD_Name__c":"Hydroa vacciniforme","GARD_Synonym__c":"acute vesiculation and crusting and scarring following sun exposure; bazin's hydroa vacciniforme","Curated_Disease_Description_Source__c":"MONDO:0018024","Curated_Disease_Description__c":"A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:330058","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018024","ORPHANET_ID__c":"ORPHA:330058","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hidroa vacciniforme","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hidroa vacciniforme","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 rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.","Curated_Disease_Description_Source__c":"MONDO:0018024","GARD_Synonym__c":"acute vesiculation and crusting and scarring following sun exposure; bazin's hydroa vacciniforme","Name":"Hydroa vacciniforme","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:330058"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006837","Source__c":"C0020241; MONDO:0018024","Xref__c":"D006837"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020241","Source__c":"C0020241","Xref__c":"C0020241"},{"URL__c":"https://www.orpha.net/en/disease/detail/330058","Source__c":"C0020241; MONDO:0018024; ORPHA:330058","Xref__c":"ORPHA:330058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5661","Source__c":"C0020241","Xref__c":"MEDGEN:5661"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84766","Source__c":"C0020241; MONDO:0018024","Xref__c":"C84766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=200837006","Source__c":"C0020241; MONDO:0018024","Xref__c":"200837006"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032381","Source__c":"C0020241","Xref__c":"HP:0032381"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018024","Source__c":"GARD:0009654","Xref__c":"MONDO:0018024"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A feeling of general discomfort, weakness, or lack of health.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033834","HPO_Name__c":"Malaise","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031190","HPO_Synonym__c":"Superficial perivascular inflammatory infiltrate","HPO_Name__c":"Superficial dermal perivascular inflammatory infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031541","HPO_Name__c":"Linear C3 deposits along the epidermal basement membrane zone","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033700","HPO_Synonym__c":"Papulo-vesicular eruption","HPO_Name__c":"Papulovesicular eruption","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100699","HPO_Synonym__c":"Scarring","HPO_Name__c":"Scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025300","HPO_Synonym__c":"Butterfly rash; Cheekbone rash","HPO_Name__c":"Malar rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100585","HPO_Synonym__c":"Teleangiectasia of the skin","HPO_Name__c":"Telangiectasia of the skin","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032381","HPO_Synonym__c":"Acute vesiculation and crusting and scarring following sun exposure","HPO_Name__c":"Hydroa vacciniforme","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormally increased excretion of porphyrins in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010473","HPO_Name__c":"Porphyrinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:330058","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["acute vesiculation and crusting and scarring following sun exposure"," bazin's hydroa vacciniforme"]}