{"Name":"Juvenile myelomonocytic leukemia","DiseaseID__c":"GARD:0009884","id":9884,"encodedName":"juvenile-myelomonocytic-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Juvenile myelomonocytic leukemia","Xref_IDs__c":"128832006; 445227008; C0349639; C9233; C93.3; D054429; DOID:0050458; HP:0012209; MEDGEN:138109; MONDO:0011908; OMIM:607785; ORPHA:86834","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":2,"Description_Source__c":"MONDO:0011908","Disease_Description__c":"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)","GARD_Name__c":"Juvenile myelomonocytic leukemia","GARD_Synonym__c":"jcml; jcml - juvenile chronic myeloid leukemia; jmml; juvenile chronic myelogenous leukaemia; juvenile chronic myelogenous leukemia; juvenile chronic myeloid leukaemia; juvenile chronic myeloid leukemia; juvenile chronic myelomonocytic leukaemia; juvenile chronic myelomonocytic leukemia; juvenile myelomonocytic leukaemia; juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation; leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation; leukemia, juvenile myelomonocytic, somatic","Curated_Disease_Description_Source__c":"MONDO:0011908","Curated_Disease_Description__c":"A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:86834","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011908","ORPHANET_ID__c":"ORPHA:86834","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia mielomonocítica juvenil","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucemia mielomonocítica juvenil","Spanish_GARD_Synonym__c":"leucemia mielomonocítica crónica juvenil; lmmj","Category_Linearization__c":"ORPHA:250908","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 myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)","Curated_Disease_Description_Source__c":"MONDO:0011908","GARD_Synonym__c":"jcml; jcml - juvenile chronic myeloid leukemia; jmml; juvenile chronic myelogenous leukaemia; juvenile chronic myelogenous leukemia; juvenile chronic myeloid leukaemia; juvenile chronic myeloid leukemia; juvenile chronic myelomonocytic leukaemia; juvenile chronic myelomonocytic leukemia; juvenile myelomonocytic leukaemia; juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation; leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation; leukemia, juvenile myelomonocytic, somatic","Name":"Juvenile myelomonocytic leukemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:86834"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86834"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0349639"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009884","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=138109","Source__c":"C0349639","Xref__c":"MEDGEN:138109"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=445227008","Source__c":"C0349639; MONDO:0011908","Xref__c":"445227008"},{"URL__c":"https://www.omim.org/entry/607785","Source__c":"C0349639; MONDO:0011908; ORPHA:86834","Xref__c":"OMIM:607785"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9233","Source__c":"C0349639; MONDO:0011908","Xref__c":"C9233"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0349639","Source__c":"C0349639","Xref__c":"C0349639"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054429","Source__c":"C0349639; MONDO:0011908","Xref__c":"D054429"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050458","Source__c":"MONDO:0011908","Xref__c":"DOID:0050458"},{"URL__c":"https://www.orpha.net/en/disease/detail/86834","Source__c":"C0349639; MONDO:0011908; ORPHA:86834","Xref__c":"ORPHA:86834"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277587001","Source__c":"C0349639","Xref__c":"277587001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128832006","Source__c":"C0349639","Xref__c":"128832006"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C93.3","Source__c":"MONDO:0011908","Xref__c":"C93.3"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011908","Source__c":"GARD:0009884","Xref__c":"MONDO:0011908"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012209","Source__c":"C0349639","Xref__c":"HP:0012209"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ARHGAP26","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PTPN11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ptpn11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607785","Feature__r":{"HPO_Description__c":"Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012209","HPO_Name__c":"Juvenile myelomonocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["jcml"," jcml - juvenile chronic myeloid leukemia"," jmml"," juvenile chronic myelogenous leukaemia"," juvenile chronic myelogenous leukemia"," juvenile chronic myeloid leukaemia"," juvenile chronic myeloid leukemia"," juvenile chronic myelomonocytic leukaemia"," juvenile chronic myelomonocytic leukemia"," juvenile myelomonocytic leukaemia"," juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation"," leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation"," leukemia, juvenile myelomonocytic, somatic"]}