{"Name":"Melanoma and neural system tumor syndrome","DiseaseID__c":"GARD:0008468","id":8468,"encodedName":"melanoma-and-neural-system-tumor-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Melanoma and neural system tumor syndrome","Xref_IDs__c":"717968005; C176905; C1835042; C536149; DOID:0111511; MEDGEN:331890; MONDO:0007967; OMIM:155755; ORPHA:252206","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007967","Disease_Description__c":"Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).","GARD_Name__c":"Melanoma and neural system tumor syndrome","GARD_Synonym__c":"melanoma-astrocytoma syndrome","Curated_Disease_Description_Source__c":"MONDO:0007967","Curated_Disease_Description__c":"Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:252206","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007967","ORPHANET_ID__c":"ORPHA:252206","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de melanoma-tumor del sistema nervioso","Spanish_Description_Source__c":"ORPHA:252206","Spanish_Description__c":"Es una asociación de tumores muy poco frecuente caracterizada por una doble predisposición al melanoma y tumores del sistema nervioso (típicamente astrocitoma).","Spanish_Disease_Name__c":"síndrome de melanoma-tumor del sistema nervioso","Spanish_GARD_Synonym__c":"síndrome melanoma-astrocitoma","Category_Linearization__c":"ORPHA:98006","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":"Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).","Curated_Disease_Description_Source__c":"MONDO:0007967","GARD_Synonym__c":"melanoma-astrocytoma syndrome","Name":"Melanoma and neural system tumor syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:252206"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:252206"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835042"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008468","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111511","Source__c":"MONDO:0007967","Xref__c":"DOID:0111511"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835042","Source__c":"C1835042","Xref__c":"C1835042"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536149","Source__c":"MONDO:0007967","Xref__c":"C536149"},{"URL__c":"https://www.omim.org/entry/155755","Source__c":"C1835042; MONDO:0007967; ORPHA:252206","Xref__c":"OMIM:155755"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331890","Source__c":"C1835042","Xref__c":"MEDGEN:331890"},{"URL__c":"https://www.orpha.net/en/disease/detail/252206","Source__c":"C1835042; MONDO:0007967; ORPHA:252206","Xref__c":"ORPHA:252206"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717968005","Source__c":"C1835042; MONDO:0007967","Xref__c":"717968005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007967","Source__c":"GARD:0008468","Xref__c":"MONDO:0007967"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176905","Source__c":"C1835042; MONDO:0007967","Xref__c":"C176905"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDKN2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkn2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:155755","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:155755","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology"],"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"]},"synonyms":["melanoma-astrocytoma syndrome"]}