Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

Synonyms

megakaryoblastic AML with t(1;22)(p13;q13)

Definitions

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.

ID

http://purl.obolibrary.org/obo/MONDO_0018436

database_cross_reference

Orphanet:402023

SCTID:763796007

definition

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.

exactMatch

http://identifiers.org/snomedct/763796007

http://purl.obolibrary.org/obo/Orphanet_402023

has_exact_synonym

megakaryoblastic AML with t(1;22)(p13;q13)

id

MONDO:0018436

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

label

megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

notation

MONDO:0018436

prefLabel

megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

treeView

http://purl.obolibrary.org/obo/MONDO_0018874

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018874

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http://www.orpha.net/ORDO/Orphanet_402023 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM