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14q32 duplication syndrome

^ http://purl.obolibrary.org/obo/MONDO_0014707

14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. [ Orphanet:488280 ]

Term info

database cross reference
  • Orphanet:488280 (MONDO:equivalentTo)
  • UMLS:C4225449 (MONDO:ncbi_mim2gene_medline)
  • OMIM:616604 (Orphanet:488280)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

definition

14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.

exactMatch

https://omim.org/entry/616604, http://linkedlifedata.com/resource/umls/id/C4225449, http://purl.obolibrary.org/obo/Orphanet_488280

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020076

has exact synonym

predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, trisomy 14q32, dup(14)q(32)

has related synonym

chromosome 14q32 DUPLICATION syndrome, 700-KB, myeloproliferative neoplasms, familial, susceptibility to

id

MONDO:0014707