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Items: 19

1.

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
2.

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
3.

Acute promyelocytic leukemia

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

MedGen UID:
505697
Concept ID:
CN004281
Finding
4.

Positive

Involving advantage or good. [from NCI]

MedGen UID:
254858
Concept ID:
C1446409
Finding
5.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
6.

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
7.

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
8.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
9.

Not detected

The presence of the specified component / analyte, organism or clinical sign could not be determined within the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617736
Concept ID:
C0442737
Finding
10.

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
11.

Acute

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

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
12.

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
13.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
14.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
15.

Neoplasms by Histologic Type

A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. [from MeSH]

MedGen UID:
10295
Concept ID:
C0027652
Neoplastic Process
16.

Chronic Monocytic Leukemia

MedGen UID:
9729
Concept ID:
C0023466
Neoplastic Process
17.

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
18.

Deletion with complex rearrangement

MedGen UID:
609519
Concept ID:
C0432446
Cell or Molecular Dysfunction
19.

PML-RARA Fusion Protein Expression

Expression of a fusion protein that results from a fusion of the human genes PML and RARA. [from NCI]

MedGen UID:
309533
Concept ID:
C1518798
Cell or Molecular Dysfunction
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