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Items: 11

1.

Diamond-Blackfan anemia 2

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or 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:
344104
Concept ID:
C1853666
Disease or Syndrome
2.

Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or 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
Disease or Syndrome
3.

Weight loss

Reduction of total body weight. [from HPO]

MedGen UID:
853198
Concept ID:
C1262477
Finding; Finding
4.

Infections

MedGen UID:
678472
Concept ID:
C0851162
Disease or Syndrome
5.

Disease susceptibility

A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. [from MeSH]

MedGen UID:
41610
Concept ID:
C0012655
Clinical Attribute
6.

Neoplasm of lung

Tumor of the lung. [from HPO]

MedGen UID:
7400
Concept ID:
C0024121
Neoplastic Process
7.

viral disease

Any disease caused by a virus. [from NCI]

MedGen UID:
53027
Concept ID:
C0042769
Disease or Syndrome
8.

Respiratory tract infection

An infection of the upper or lower respiratory tract. [from HPO]

MedGen UID:
11199
Concept ID:
C0035243
Disease or Syndrome
9.

Tooth agenesis, selective, 4

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. [from MONDO]

MedGen UID:
372057
Concept ID:
C1835492
Disease or Syndrome
10.

Influenza, severe, susceptibility to

MedGen UID:
766376
Concept ID:
C3553462
Finding
11.

Familial hyperinflammatory lymphoproliferative immunodeficiency

MedGen UID:
1842618
Concept ID:
C5680415
Disease or Syndrome
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