{"Name":"Symmetrical dyschromatosis of extremities","DiseaseID__c":"GARD:0000334","id":334,"encodedName":"symmetrical-dyschromatosis-of-extremities","IsDeleted":false,"Disease_Name_Full__c":"Symmetrical dyschromatosis of extremities","Xref_IDs__c":"239085000; C0406775; C118435; C535729; DOID:0060257; MEDGEN:96071; MONDO:0007483; OMIM:127400; ORPHA:41","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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:0007483","Disease_Description__c":"A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.","GARD_Name__c":"Symmetrical dyschromatosis of extremities","GARD_Synonym__c":"acropigmentation of dohi; dsh; dsh1; dyschromatosis symmetrica hereditaria; dyschromatosis symmetrica hereditaria 1; rad; reticulate acropigmentation of dohi; symmetric dyschromatosis of the extremities","Curated_Disease_Description_Source__c":"MONDO:0007483","Curated_Disease_Description__c":"A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:41","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007483","ORPHANET_ID__c":"ORPHA:41","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discromatosis simétrica hereditaria","Spanish_Description_Source__c":"ORPHA:41","Spanish_Description__c":"Es una genodermatosis poco frecuente caracterizada por la presencia de una mezcla de máculas hiper- e hipopigmentadas de aproximadamente 5 mm de diámetro, ubicadas principalmente en las extremidades.","Spanish_Disease_Name__c":"discromatosis simétrica hereditaria","Spanish_GARD_Synonym__c":"acropigmentación de dohi","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 genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities.","Curated_Disease_Description_Source__c":"MONDO:0007483","GARD_Synonym__c":"acropigmentation of dohi; dsh; dsh1; dyschromatosis symmetrica hereditaria; dyschromatosis symmetrica hereditaria 1; rad; reticulate acropigmentation of dohi; symmetric dyschromatosis of the extremities","Name":"Symmetrical dyschromatosis of extremities","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Childhood","Provided_By__c":"ORPHA:41"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0406775"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000334","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/41","Source__c":"C0406775; MONDO:0007483; ORPHA:41","Xref__c":"ORPHA:41"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118435","Source__c":"C0406775; MONDO:0007483","Xref__c":"C118435"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535729","Source__c":"MONDO:0007483","Xref__c":"C535729"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060257","Source__c":"MONDO:0007483","Xref__c":"DOID:0060257"},{"URL__c":"https://www.omim.org/entry/127400","Source__c":"C0406775; MONDO:0007483; ORPHA:41","Xref__c":"OMIM:127400"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239085000","Source__c":"C0406775; MONDO:0007483","Xref__c":"239085000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406775","Source__c":"C0406775","Xref__c":"C0406775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96071","Source__c":"C0406775","Xref__c":"MEDGEN:96071"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007483","Source__c":"GARD:0000334","Xref__c":"MONDO:0007483"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ADAR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/adar","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:41","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased amount of pigmentation in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011509","HPO_Name__c":"Macular hyperpigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41","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:41","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001304","HPO_Synonym__c":"Dystonia musculorum deformans","HPO_Name__c":"Torsion dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:41","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased amount of pigmentation in the macula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007988","HPO_Synonym__c":"Macular depigmentation","HPO_Name__c":"Macular hypopigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["acropigmentation of dohi"," dsh"," dsh1"," dyschromatosis symmetrica hereditaria"," dyschromatosis symmetrica hereditaria 1"," rad"," reticulate acropigmentation of dohi"," symmetric dyschromatosis of the extremities"]}