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) [ NCIT:C9233 ]
Synonyms: JMML juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation juvenile chronic myeloid leukemia juvenile chronic myelogenous leukemia juvenile chronic myelogenous leukaemia juvenile chronic myelomonocytic leukaemia leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation JCML leukemia, juvenile myelomonocytic, somatic juvenile chronic myelomonocytic leukemia juvenile chronic myeloid leukaemia
Term information
- MedDRA:10023249 (Orphanet:86834/e)
- EFO:1000309 (MONDO:equivalentTo)
- OMIM:607785 (Orphanet:86834/e)
- NCIT:C9233 (MONDO:equivalentTo)
- NANDO:2200015 (https://orcid.org/0000-0003-0011-764X)
- NANDO:2200014 (https://orcid.org/0000-0003-0011-764X)
- Orphanet:86834 (OMIM:607785)
- MESH:D054429 (Orphanet:86834/e)
- MEDGEN:138109 (MONDO:equivalentTo)
- icd11.foundation:1786015803 (https://orcid.org/0000-0001-5208-3432)
- NORD:1316 (MONDO:NORD)
- UMLS:C0349639 (MONDO:equivalentTo)
- ONCOTREE:JMML (MONDO:equivalentTo)
- DOID:0050458 (MONDO:equivalentTo)
- ICDO:9946/3 (NCIT:C9233)
- GARD:9884 (MONDO:GARD)
- SCTID:445227008 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://identifiers.org/snomedct/445227008
http://identifiers.org/mesh/D054429
http://identifiers.org/medgen/138109
http://purl.obolibrary.org/obo/DOID_0050458
http://www.orpha.net/ORDO/Orphanet_86834
http://purl.obolibrary.org/obo/NCIT_C9233
http://linkedlifedata.com/resource/umls/id/C0349639
https://omim.org/entry/607785
Term relations
- chronic myelomonocytic leukemia
- hereditary disorder of connective tissue
- has material basis in germline mutation in some NF1
- has material basis in germline mutation in some CBL
- has material basis in germline mutation in some ARHGAP26
- has material basis in germline mutation in some PTPN11