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Items: 11

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.

Acute lymphoblastic leukemia

A form of acute leukemia characterized by excess lympoblasts. [from HPO]

MedGen UID:
505958
Concept ID:
CN005851
Finding
3.

Acute myeloid leukemia

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

MedGen UID:
505691
Concept ID:
CN004254
Finding
4.

Leukemia

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

MedGen UID:
505002
Concept ID:
CN001727
Finding
5.

Tourette Syndrome

Tourette disorder (TD) is defined by the presence for more than a year of multiple motor tics and at least one vocal tic. Tics are sudden, rapid, recurrent, nonrhythmic, stereotyped motor movements or vocalizations. Individuals with either vocal or motor tics (but not both) for more than a year are given diagnoses of chronic vocal tics (CVT) or chronic motor tics (CMT), respectively. The onset of Tourette disorder is in early childhood with symptoms typically peaking before puberty and showing marked improvement by adulthood. Tourette disorder often co-occurs with other neuropsychiatric disorders, most notably attention deficit hyperactivity disorder (ADHD) and/or obsessive-compulsive disorder (OCD), and it is often these co-occurring, or comorbid conditions that bring affected individuals to medical attention. [from GeneReviews]

MedGen UID:
21219
Concept ID:
C0040517
Disease or Syndrome; Mental or Behavioral Dysfunction
6.

Acute lymphoid leukemia

Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009). Genetic Heterogeneity of Acute Lymphoblastic Leukemia A susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (613067), which has been mapped to chromosome 7p12.2; and ALL3 (615545), which is caused by mutation in the PAX5 gene (167414) on chromosome 9p. [from OMIM]

MedGen UID:
7317
Concept ID:
C0023449
Neoplastic Process
7.

Precursor Cell Lymphoblastic Leukemia-Lymphoma

A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias. [from MeSH]

MedGen UID:
409528
Concept ID:
C1961102
Neoplastic Process
8.

Lymphadenopathy

Enlargment (swelling) of a lymph node. [from HPO]

MedGen UID:
96929
Concept ID:
C0497156
Finding
9.

Lymphatic Diseases

The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
10.

Lymphoid leukemia

Leukemia associated with hyperplasia of the lymphoid tissues and increased numbers of circulating malignant lymphocytes and lymphoblasts. [from HPO]

MedGen UID:
9728
Concept ID:
C0023448
Neoplastic Process
11.

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
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