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Items: 19

1.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
2.

AML - Acute myeloid leukemia

Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA pathogenic variant is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA pathogenic variant. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease. [from GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
3.

Myeloid leukemia

Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites. [from MeSH]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
4.

Myeloid leukemia

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

MedGen UID:
852180
Concept ID:
CN178701
Finding
5.

Breast cancer

MedGen UID:
808165
Concept ID:
CN221572
Disease or Syndrome
6.

Neoplasm of the breast

A tumor (abnormal growth of tissue) of the breast. [from HPO]

MedGen UID:
506444
Concept ID:
CN116912
Finding
7.

Acute myeloid leukemia

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

MedGen UID:
505691
Concept ID:
CN004254
Finding
8.

Acute leukemia

MedGen UID:
505251
Concept ID:
CN002259
Finding
9.

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
10.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
11.

Myelodysplasia

MedGen UID:
368407
Concept ID:
C1963099
Finding
12.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
13.

Hematologic neoplasm

Cancers of the blood or bone marrow, including leukemia and lymphoma. Also called hematologic cancers. [from NCI]

MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
14.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
15.

Solid tumor

A benign or malignant neoplasm arising from tissues that do not include fluid areas. Representative examples include epithelial neoplasms (e.g. lung carcinoma, prostate carcinoma, breast carcinoma, colon carcinoma), and neoplasms arising from the soft tissues and bones (e.g. leiomyosarcoma, liposarcoma, chondrosarcoma, osteosarcoma). Neoplasms originating from the blood or bone marrow (leukemias and myeloproliferative disorders) are not considered solid tumors. [from NCI]

MedGen UID:
124697
Concept ID:
C0280100
Neoplastic Process
16.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
17.

Miller Dieker syndrome

LIS1-associated lissencephaly includes Miller-Dieker syndrome (MDS), isolated lissencephaly sequence (ILS), and (rarely) subcortical band heterotopia (SBH). Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. Lissencephaly refers to a "smooth brain" with absent gyri (agyria) or abnormally wide gyri (pachygyria). SBH refers to a band of heterotopic gray matter located just beneath the cortex and separated from it by a thin zone of normal white matter. MDS is characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. ILS is characterized by lissencephaly and its direct sequelae: developmental delay, intellectual disability, and seizures. [from GeneReviews]

MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
18.

Myelodysplastic syndrome

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from OMIM]

MedGen UID:
44547
Concept ID:
C0026986
Neoplastic Process
19.

Myelodysplasia

MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
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