{"Name":"Dyschromatosis universalis hereditaria","DiseaseID__c":"GARD:0001996","id":1996,"encodedName":"dyschromatosis-universalis-hereditaria","IsDeleted":false,"Disease_Name_Full__c":"Dyschromatosis universalis hereditaria","Xref_IDs__c":"239082002; C173131; C2930995; C535730; DOID:0060304; MEDGEN:419691; MONDO:0000736; OMIMPS:127500; ORPHA:241","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0000736","Disease_Description__c":"A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.","GARD_Name__c":"Dyschromatosis universalis hereditaria","GARD_Synonym__c":"duh; dyschromatosis universalis","Curated_Disease_Description_Source__c":"MONDO:0000736","Curated_Disease_Description__c":"A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:241","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000736","ORPHANET_ID__c":"ORPHA:241","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discromatosis universal hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"discromatosis universal hereditaria","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 pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.","Curated_Disease_Description_Source__c":"MONDO:0000736","GARD_Synonym__c":"duh; dyschromatosis universalis","Name":"Dyschromatosis universalis hereditaria","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:241"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:241"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675711"},{"Type__c":"GTR","Curie__c":"MEDGEN:C2930995"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001996","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419691","Source__c":"C2930995","Xref__c":"MEDGEN:419691"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239082002","Source__c":"MONDO:0000736","Xref__c":"239082002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060304","Source__c":"MONDO:0000736","Xref__c":"DOID:0060304"},{"URL__c":"https://www.orpha.net/en/disease/detail/241","Source__c":"C2930995; MONDO:0000736; ORPHA:241","Xref__c":"ORPHA:241"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C173131","Source__c":"C2930995; MONDO:0000736","Xref__c":"C173131"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS127500","Source__c":"MONDO:0000736","Xref__c":"OMIMPS:127500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535730","Source__c":"MONDO:0000736","Xref__c":"C535730"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2930995","Source__c":"C2930995","Xref__c":"C2930995"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000736","Source__c":"GARD:0001996","Xref__c":"MONDO:0000736"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001053","HPO_Synonym__c":"Patchy loss of skin color","HPO_Name__c":"Hypopigmented skin patches","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","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:241","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005590","HPO_Synonym__c":"Patchy depigmentation; Patchy hypopigmentation; Spotty decreased pigmentation","HPO_Name__c":"Spotty hypopigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of six or more cafe-au-lait spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007565","HPO_Name__c":"Multiple cafe-au-lait spots","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:241","HPO_Frequency__c":"Frequent (30-79%)","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":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["duh"," dyschromatosis universalis"]}