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1.

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include: -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
2.

Diamond-Blackfan anemia 4

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
393906
Concept ID:
C2675860
Disease or Syndrome
3.

Diamond-Blackfan anemia 8

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
390817
Concept ID:
C2675511
Disease or Syndrome
4.

Diamond-Blackfan anemia 3

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
387892
Concept ID:
C1857719
Disease or Syndrome
5.

Diamond-Blackfan anemia 5

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
382705
Concept ID:
C2675859
Disease or Syndrome
6.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) in its classic form is characterized by a profound isolated normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in approximately 50% of affected individuals, and growth retardation in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life (median age of onset: 2 months). Eventually, 40% of affected individuals are corticosteroid dependent, 40% are transfusion dependent, and 20% go into remission. The phenotypic spectrum ranges from a mild form (e.g., mild anemia; no anemia with only subtle erythroid abnormalities; physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma. [from GeneReviews]

MedGen UID:
266045
Concept ID:
C1260899
Congenital Abnormality
7.

Anemia

A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
8.

Genetic translation

ribosome mediated process by which polypeptide chains are synthesized, the aminoacid sequence being completely determined by the sequence of bases in a messenger RNA, which in turn is determined by the sequences of bases in the DNA of the gene from which it was transcribed. [from CRISP]

MedGen UID:
108933
Concept ID:
C0597295
Molecular Function
9.

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
10.

Normocellular bone marrow

MedGen UID:
755592
Concept ID:
C2960424
Finding
11.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
12.

Macrocytic anemia

A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). [from HPO]

MedGen UID:
505031
Concept ID:
CN001784
Finding
13.

Diamond-Blackfan anemia 1

MedGen UID:
390966
Concept ID:
C2676137
Disease or Syndrome
14.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
15.

Position

An observation denoting the physical location of a person or thing based on a reference coordinate system.  [from HL7]

MedGen UID:
149196
Concept ID:
C0733755
16.

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
17.

Macrocytic anemia

Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). [from MeSH]

MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
18.

Congenital hypoplastic anemia

An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA. [from MeSH]

MedGen UID:
182696
Concept ID:
C0949116
Disease or Syndrome
19.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Hypoplastic anemia

MedGen UID:
64229
Concept ID:
C0178416
Disease or Syndrome

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