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Results: 1 to 20 of 26

1.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
2.

Thrombocytopenia

A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen. [from NCI]

MedGen UID:
52737
Concept ID:
C0040034
Finding
3.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
4.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance
5.

Error occurred: cannot get document summary

ID:
442132

6.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
7.

Familial platelet disorder with associated myeloid malignancy

MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
8.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
9.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
10.

Acute

Symptoms or signs that begin and worsen quickly; not chronic. [from NCI]

MedGen UID:
61381
Concept ID:
C0205178
11.

AML - Acute myeloid leukemia

Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation 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 mutation 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 mutation. 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
12.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
13.

Platelet disorder

Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. If your blood has a low number of platelets, you can be at risk for mild to serious bleeding. If your blood has too many platelets, you may have a higher risk of blood clots. With other platelet disorders, the platelets do not work as they should. For example, in von Willebrand Disease, the platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. Treatment of platelet disorders depends on the cause. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
610
Concept ID:
C0005818
Disease or Syndrome
14.

Acute Myeloid Leukemia (AML-M2)

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
15.

Family health status

Overall health and social competence of family unit [from NOC]

MedGen UID:
109024
Concept ID:
C0600220
Finding
16.

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
17.

Chronic monocytic leukemia

MedGen UID:
9729
Concept ID:
C0023466
Neoplastic Process
18.

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, however, 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; childen 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
19.

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
20.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome

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