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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 GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
2.

Leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types of leukemia, including. -Acute lymphocytic leukemia. -Acute myeloid leukemia. -Chronic lymphocytic leukemia. -Chronic myeloid leukemia. Leukemia can develop quickly or slowly. Chronic leukemia grows slowly. In acute leukemia, the cells are very abnormal and their number increases rapidly. Adults can get either type; children with leukemia most often have an acute type. Some leukemias can often be cured. Other types are hard to cure, but you can often control them. Treatments may include chemotherapy, radiation and stem cell transplantation. Even if symptoms disappear, you might need therapy to prevent a relapse. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
3.

Protanomaly

A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [from HPO]

MedGen UID:
854688
Concept ID:
C3887980
Disease or Syndrome
4.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
5.

Acute myeloid leukemia

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

MedGen UID:
505691
Concept ID:
CN004254
Finding
6.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
7.

Therapy-Related Acute Myeloid Leukemia

An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation. (WHO, 2001) [from NCI]

MedGen UID:
237008
Concept ID:
C1336735
Neoplastic Process
8.

Acute

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

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
9.

Protan defect

Hereditary red-green color vision defects manifest mostly in males; the condition is not accompanied by ophthalmologic or other associated clinical abnormalities. Most individuals with protanomalous and deuteranomalous color vision defects (i.e., anomalous trichromats) have no problems in naming colors; some males with mildly defective red-green color vision may not be aware of it until they are tested. Individuals with dichromatic color vision defects (i.e., dichromats) are more proficient in deciphering texture camouflaged by color than observers with normal red-green color vision. Among individuals of northern European origin, about 8% of males and 0.5% of females have red-green color vision defects; these defects are less frequent among males of African (3%-4%) or Asian (3%) origin. [from GeneReviews]

MedGen UID:
56350
Concept ID:
C0155015
Disease or Syndrome
10.

Myeloid leukemia

A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. [from HPO]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
11.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
12.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
13.

Poor prognosis

MedGen UID:
548766
Concept ID:
C0278252
Finding
14.

Multicystic renal dysplasia, bilateral

Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). [from OMIM]

MedGen UID:
333563
Concept ID:
C1840451
Congenital Abnormality; Disease or Syndrome
15.

Residual Disease

Cancer cells that remain after attempts to remove the cancer have been made. [from NCI_NCI-GLOSS]

MedGen UID:
108162
Concept ID:
C0543478
Neoplastic Process
16.

Minimal Residual Disease

remainder of a tumor or a neoplasm/cancer after primary, potentially curative therapy. [from CRISP]

MedGen UID:
66115
Concept ID:
C0242596
Neoplastic Process
17.

Acute Myeloid Leukemia with Maturation

An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001) [from NCI]

MedGen UID:
361829
Concept ID:
C1879321
Neoplastic Process
18.

Therapy-Related Neoplasm

The development of a neoplasm in response to medical or surgical treatment, induced by the treatment itself. [from NCI]

MedGen UID:
88608
Concept ID:
C0086696
Neoplastic Process
19.

Neoplasms, Second Primary

Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause. [from MeSH]

MedGen UID:
88350
Concept ID:
C0085183
Neoplastic Process
20.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
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