DiseaseID 5289

珠蛋白生成障碍性贫血

group

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Disease: 1Symptom: 12Target: 12Links: 24

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Record Fields

Scalar fields from the final disease record.

Disease Id: 5289
Core Entity Id: 61765
Source Entity Count: 1
Preferred Name: Thalassemia
Name Cn: 珠蛋白生成障碍性贫血
Name Pinyin: Zhu Dan Bai Sheng Cheng Zhang Ai Xing Pin Xue
Name En: Thalassemia
Name Latin
Bilingual Status: complete
Disease Type: group
Umls Disease Type: Disease or Syndrome
Disgenet Type: group
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Do Class: genetic disease
Hpo Class
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Hpo Class Name
Do Class Name: genetic disease
Disease Definition: NCI2016_02D:An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.|MSH2017_2016_08_12:A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.|MEDLINEPLUS_20151021:Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to <a href='https://www.nlm.nih.gov/medlineplus/anemia.html'>anemia</a>. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute|CSP2006:heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains.|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia
Version: v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Thalassemia

Role

preferred

Name

Thalassaemia

Role

alias

Name

Thalassaemia, Unspecified

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS002925

Me Sh

D013789

Umls

C0039730

Icd10

D56D56.9

Sym Map

SMDE13842

Do Class

DOID:630

Dis Ge Net

C0039730

Umls Sty

T047

Me Sh Class

C15C16

Tcmbank Disease

31623

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Do Class Name

genetic disease

Disease Type

group

Do Disease Class

genetic disease

Umls Disease Type

Disease or Syndrome

Disease Definition

NCI2016_02D:An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.|MSH2017_2016_08_12:A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.|MEDLINEPLUS_20151021:Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to <a href='https://www.nlm.nih.gov/medlineplus/anemia.html'>anemia</a>. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute|CSP2006:heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains.|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia|CHV2011_02:An inherited form of anemia

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases

Dis Ge Net Disease Type

group

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases

Umls Semantic Type Name

Disease or Syndrome