Preferred Name

JUVENILE MYELOMONOCYTIC LEUKEMIA

Synonyms

LEUKEMIA, CHRONIC MYELOMONOCYTIC

ID

http://purl.bioontology.org/ontology/OMIM/607785

altLabel

LEUKEMIA, CHRONIC MYELOMONOCYTIC

JMML

LEUKEMIA, JUVENILE MYELOMONOCYTIC

CMML

cui

C0349639

C0023480

Gene Locus

17q11.2

Gene Symbol

NFNS

WSS

NF1

VRNF

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU054442

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

607785

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

JUVENILE MYELOMONOCYTIC LEUKEMIA

Scope Statement

Caused by somatic mutation in the RHO GTPase-activating protein 26 gene (ARHGAP26, 605370.0001) [MOLECULAR BASIS]

Caused by somatic mutation in the neuroblastoma Ras viral oncogene (NRAS, 164790.0003) [MOLECULAR BASIS]

Caused by somatic mutation in the Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog gene (KRAS, 190070.0003) [MOLECULAR BASIS]

Caused by somatic mutation in the protein tyrosine phosphatase, nonreceptor-type, 11 gene (PTPN11, 176876.0014) [MOLECULAR BASIS]

One family has been reported with germline CBL mutation (last curated May 2016) [MISCELLANEOUS]

Caused by mutation in the CBL gene (CBL, 165360.0009) [MOLECULAR BASIS]

Caused by mutation in the NF1 gene (NF1, 613113.0019) [MOLECULAR BASIS]

tui

T191

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http://purl.bioontology.org/ontology/MESH/D015477 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/C93.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.obolibrary.org/obo/MONDO_0011908 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_86834 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://www.ebi.ac.uk/efo/EFO_1000309 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9233 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/HP_0012209 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050458 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050458 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/C93.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/C93.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/ICD10CM/C93.10 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/C93.30 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D054429 Medical Subject Headings / 医学主题词表 CUI