{"Name":"Cafe au lait spots, multiple","DiseaseID__c":"GARD:0003967","id":3967,"encodedName":"cafe-au-lait-spots-multiple","IsDeleted":false,"Disease_Name_Full__c":"Cafe au lait spots, multiple","Xref_IDs__c":"C1861975; C537421; MEDGEN:396266; MONDO:0007245; OMIM:114030; ORPHA:2678","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007245","Disease_Description__c":"Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.","GARD_Name__c":"Cafe au lait spots, multiple","GARD_Synonym__c":"autosomal dominant café au lait spots; cafe-au-lait spots, multiple; familial cafe-au-lait spots; familial café-au-lait spots; familial calms (café-au-lait macules) isolated; familial isolated café-au-lait macules; familial isolated café-au-lait spots; multiple birthmarks; multiple cafe-au-lait spots; multiple cafe-au-lait syndrome; multiple café-au-lait spots; multiple café-au-lait syndrome; multiple flat light-brown marks on skin; neurofibromatosis type 6; nf6; nf6 - neurofibromatosis type 6","Curated_Disease_Description_Source__c":"MONDO:0007245","Curated_Disease_Description__c":"A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2678","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007245","ORPHANET_ID__c":"ORPHA:2678","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Máculas café con leche aisladas familiares","Spanish_Description_Source__c":"ORPHA:2678","Spanish_Description__c":"La neurofibromatosis tipo 6 (NF6), o síndrome de las manchas café con leche, es una enfermedad cutánea caracterizada por la presencia de varias máculas café con leche (CCL) sin otras manifestaciones de neurofibromatosis o de otra enfermedad sistémica.","Spanish_Disease_Name__c":"máculas café con leche aisladas familiares","Spanish_GARD_Synonym__c":"manchas café con leche aisladas familiares; múltiples manchas café con leche aisladas; síndrome aislado de múltiples manchas café con leche","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 cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.","Curated_Disease_Description_Source__c":"MONDO:0007245","GARD_Synonym__c":"autosomal dominant café au lait spots; cafe-au-lait spots, multiple; familial cafe-au-lait spots; familial café-au-lait spots; familial calms (café-au-lait macules) isolated; familial isolated café-au-lait macules; familial isolated café-au-lait spots; multiple birthmarks; multiple cafe-au-lait spots; multiple cafe-au-lait syndrome; multiple café-au-lait spots; multiple café-au-lait syndrome; multiple flat light-brown marks on skin; neurofibromatosis type 6; nf6; nf6 - neurofibromatosis type 6","Name":"Cafe au lait spots, multiple","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Neurofibromatosis Network","Website__c":"https://www.nfnetwork.org/"},{"Account_Name__c":"Neurofibromatosis Midwest","Website__c":"https://www.nfmidwest.org/"},{"Account_Name__c":"Neurofibromatosis California","Website__c":"https://www.nfcalifornia.org/"},{"Account_Name__c":"Neurofibromatosis Northeast","Website__c":"https://nfnortheast.org/"},{"Account_Name__c":"Children's Tumor Foundation","Website__c":"https://www.ctf.org/"}],"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:2678"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861975"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537421","Source__c":"MONDO:0007245","Xref__c":"C537421"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861975","Source__c":"C1861975","Xref__c":"C1861975"},{"URL__c":"https://www.omim.org/entry/114030","Source__c":"C1861975; MONDO:0007245; ORPHA:2678","Xref__c":"OMIM:114030"},{"URL__c":"https://www.orpha.net/en/disease/detail/2678","Source__c":"MONDO:0007245","Xref__c":"ORPHA:2678"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396266","Source__c":"C1861975","Xref__c":"MEDGEN:396266"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007245","Source__c":"GARD:0003967","Xref__c":"MONDO:0007245"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007565","Source__c":"C1861975","Xref__c":"HP:0007565"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208340009","Source__c":"C1861975","Xref__c":"1208340009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LZTR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lztr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2678","HPO_Frequency__c":"Occasional (5-29%)","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:2678","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["autosomal dominant café au lait spots"," cafe-au-lait spots, multiple"," familial cafe-au-lait spots"," familial café-au-lait spots"," familial calms (café-au-lait macules) isolated"," familial isolated café-au-lait macules"," familial isolated café-au-lait spots"," multiple birthmarks"," multiple cafe-au-lait spots"," multiple cafe-au-lait syndrome"," multiple café-au-lait spots"," multiple café-au-lait syndrome"," multiple flat light-brown marks on skin"," neurofibromatosis type 6"," nf6"," nf6 - neurofibromatosis type 6"]}