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1.

Acute promyelocytic leukemia

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). [from GTR]

MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
2.

Acute myelomonocytic leukemia

A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin. [from MeSH]

MedGen UID:
9732
Concept ID:
C0023479
Neoplastic Process
3.

Acute myeloid leukemia

CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and older than age 45 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones. [from GTR]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
4.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [from HPO]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
5.

Acute promyelocytic leukemia

A type of acute myeloid leukemia in which abnormal promyelocytes predominate. [from HPO]

MedGen UID:
505697
Concept ID:
CN004281
Finding
6.

Retinoid

A group of agents that includes retinol (Vitamin A) and related compounds with potential antineoplastic and/or chemopreventive activities. A retinoic acid agent binds to and/or activates specific nuclear retinoic acid receptors (RARs) and retinoid X receptors (RXRs), thereby modulating transcription of genes responsible for cell differentiation and proliferation. A retinoic acid agent may exhibit immunomodulatory and anti-inflammatory properties and may inhibit ornithine decarboxylase, resulting in a decrease in polyamine synthesis and keratinization. (NCI04) [from NCI]

MedGen UID:
48436
Concept ID:
C0035339
Organic Chemical; Pharmacologic Substance
7.

Disseminated intravascular coagulation

A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS. [from MeSH]

MedGen UID:
41620
Concept ID:
C0012739
Disease or Syndrome
8.

Myeloid leukemia

A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. [from NCI]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
9.

Arsenic product

A shiny gray element with atomic symbol As, atomic number 33, and atomic weight 75. It occurs throughout the universe, mostly in the form of metallic arsenides. Most forms are toxic. According to the Fourth Annual Report on Carcinogens (NTP 85-002, 1985), arsenic and certain arsenic compounds have been listed as known carcinogens. (From Merck Index, 11th ed) [from MeSH]

MedGen UID:
2070
Concept ID:
C0003818
Element, Ion, or Isotope; Hazardous or Poisonous Substance; Pharmacologic Substance
10.

Acute myeloid leukemia

A form of leukemia characterized by overproduction of an early myeloid cell. [from HPO]

MedGen UID:
505691
Concept ID:
CN004254
Finding
11.

Atrichia with papular lesions

The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. [from SNOMEDCT_US]

MedGen UID:
395299
Concept ID:
C1859592
Disease or Syndrome
12.

Staining

MedGen UID:
352872
Concept ID:
C1704680
Finding
13.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
14.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
15.

Progressive multifocal leukoencephalopathy

A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection. [from NCI]

MedGen UID:
7327
Concept ID:
C0023524
Disease or Syndrome
16.

Acute myeloid leukemia with maturation

An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) [from NCI]

MedGen UID:
361829
Concept ID:
C1879321
Neoplastic Process
17.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GTR]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
18.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
19.

Chronic Monocytic Leukemia

MedGen UID:
9729
Concept ID:
C0023466
Neoplastic Process
20.

Haemorrhagic disorders

Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). [from MeSH]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
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