{"Name":"Acromelanosis","DiseaseID__c":"GARD:0004500","id":4500,"encodedName":"acromelanosis","IsDeleted":false,"Disease_Name_Full__c":"Acromelanosis","Xref_IDs__c":"239089006; C0406779; MEDGEN:98038; MONDO:0018311; ORPHA:39","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018311","Disease_Description__c":"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.","GARD_Name__c":"Acromelanosis","GARD_Synonym__c":"progressive acromelanosis","Curated_Disease_Description_Source__c":"MONDO:0018311","Curated_Disease_Description__c":"A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:39","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018311","ORPHANET_ID__c":"ORPHA:39","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acromelanosis","Spanish_Description_Source__c":"ORPHA:39","Spanish_Description__c":"Es una anomalía poco frecuente de la pigmentación cutánea caracterizada por una hiperpigmentación asintomática de la piel en la cara dorsal de los dedos de las manos y los pies, que puede extenderse rápidamente hacia las regiones proximales, tales como los genitales, el abdomen y los muslos. Se observa mayoritariamente en neonatos o durante los primeros años de vida.","Spanish_Disease_Name__c":"acromelanosis","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 pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.","Curated_Disease_Description_Source__c":"MONDO:0018311","GARD_Synonym__c":"progressive acromelanosis","Name":"Acromelanosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:39"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:39"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239089006","Source__c":"C0406779; MONDO:0018311","Xref__c":"239089006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0406779","Source__c":"C0406779","Xref__c":"C0406779"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98038","Source__c":"C0406779","Xref__c":"MEDGEN:98038"},{"URL__c":"https://www.orpha.net/en/disease/detail/39","Source__c":"C0406779; MONDO:0018311; ORPHA:39","Xref__c":"ORPHA:39"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018311","Source__c":"GARD:0004500","Xref__c":"MONDO:0018311"}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["progressive acromelanosis"]}