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1.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

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

Acquired idiopathic sideroblastic anemia

Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. [from ORDO]

MedGen UID:
830854
Concept ID:
CN205709
Finding
3.

Refractory anemia with ringed sideroblasts

A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. [from HPO]

MedGen UID:
425291
Concept ID:
CN004274
Finding
4.

Refractory anemia with ringed sideroblasts (clinical)

A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ring sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. (WHO, 2001) [from NCI]

MedGen UID:
220394
Concept ID:
C1264195
Neoplastic Process
5.

Anemia

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

MedGen UID:
56401
Concept ID:
C0162119
Finding
6.

Refractory anemia

A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) [from NCI]

MedGen UID:
286
Concept ID:
C0002893
Disease or Syndrome
7.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
8.

Polycythemia vera

Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). [from GTR]

MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
9.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
10.

Polycythaemia

Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.(NICHD) [from NCI]

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
11.

Myeloproliferative disorder

Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE. [from MeSH]

MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
12.

Polycythemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
504995
Concept ID:
CN001719
Finding
13.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
14.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from GTR]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
15.

Myelodysplasia

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [from HPO]

MedGen UID:
483005
Concept ID:
C3463824
Neoplastic Process
16.

Enzyme activation

Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme. [from MeSH]

MedGen UID:
41819
Concept ID:
C0014429
Molecular Function
17.

Refractory sideroblastic anemia

A type of sideroblastic anemia that is not responsive to treatment. [from HPO]

MedGen UID:
8067
Concept ID:
C0002896
Disease or Syndrome
18.

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
19.

Hematologic disease

An abnormality of the hematopoietic system. [from HPO]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
20.

Bone marrow disease

An anomaly of the form or number of cells in the bone marrow. [from HPO]

MedGen UID:
2311
Concept ID:
C0005956
Disease or Syndrome
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