DiseaseID 3439
Cooley贫血
disease
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of f
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 17Herb: 12Symptom: 12Target: 24Links: 65
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3439
- Core Entity Id
- 59645
- Source Entity Count
- 1
- Preferred Name
- Cooley'S Anemia
- Name Cn
- Cooley贫血
- Name Pinyin
- Cooley Pin Xue
- Name En
- Cooley'S Anemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- 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
- Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of f
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cooley'S Anemia
Role
preferred
Name
Delta-Beta-Thalassemia
Role
preferred
Name
Dominant Beta-Thalassemia
Role
preferred
Name
Fetal Hemoglobin Quantitative Trait Locus 1
Role
preferred
Name
BETA-KNOSSOS-THALASSEMIA
Role
preferred
Name
BETA-MALAY-THALASSEMIA
Role
preferred
Name
BETA-PLUS-THALASSEMIA, DOMINANT
Role
preferred
Name
BETA-SHOWA-YAKUSHIJI THALASSEMIA
Role
preferred
Name
BETA-THALASSEMIA, LERMONTOV TYPE
Role
preferred
Name
Beta Thalassemia
Role
preferred
Name
Beta Thalassemia, Dominant Inclusion Body Type
Role
preferred
Name
Beta-Thalassemia
Role
preferred
Name
Beta-Thalassemia, Dominant Inclusion Body Type
Role
preferred
Name
Delta-Beta Thalassemia
Role
preferred
Name
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
Role
preferred
Name
HEMOGLOBIN SAINT ETIENNE PHENOTYPE
Role
preferred
Name
Hemoglobin F Disease
Role
preferred
Name
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Role
preferred
Name
Severe Beta Thalassemia
Role
preferred
Name
Thalassemia Intermedia
Role
preferred
Name
Thalassemia Minor
Role
preferred
Name
Anemia, Cooley'S
Role
alias
Name
Beta Thalassaemia
Role
alias
Name
Beta-Plus-Thalassemia
Role
alias
Name
Delta-Beta Thalassaemia
Role
alias
Name
HBFQTL1
Role
alias
Name
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
Role
alias
Name
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HB GENE CLUSTER-RELATED
Role
alias
Name
HPFH
Role
alias
Name
Hemoglobin Saint Etienne
Role
alias
Name
Hereditary Persistence of Fetal Haemoglobin [Hpfh]
Role
alias
Name
Inclusion Body Beta-thalassemia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000143HBDIS000321HBDIS001305HBDIS003309HBDIS006694HBDIS006696HBDIS015882HBDIS017600HBDIS020058HBDIS022604HBDIS022862HBDIS023449HBDIS023450HBDIS023451HBDIS023452HBDIS023453HBDIS025911HBDIS027604
Me Sh
D017086
Omim
141749142335142470603902613985
Umls
C0005283C0271985C1841621C1858990
Icd10
D56.1D56.2D56.4
Med Dra
10012236
Sym Map
SMDE00003SMDE01434SMDE01832SMDE02411SMDE04847
Do Class
DOID:630
Dis Ge Net
C0002875C0005283C0019025C0085578C0271979C0271985C1841621C1858990C2873756C3841475C3889873C4017494C4017510C4017522C4017525C4017528C4274391C4694049
Orphanet
23122623123746532
Umls Sty
T033T047
Me Sh Class
C15C16
Etcm Disease
Beta-ThalassemiaBeta-Thalassemia, Dominant Inclusion Body TypeFetal Hemoglobin Quantitative Trait Locus 1Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Tcmbank Disease
1113313646144301515015967164001699518514220832263223951286774475531663886790804780518686
Itcmdb Generated
ITX-DISEASE-41438BE8AD47ITX-DISEASE-4DD085108B7AITX-DISEASE-8E40BD12D7DAITX-DISEASE-AE6F79C8D2E7ITX-DISEASE-DE0D6569F4F6
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Beta-Thalassemia Details pageDisease Beta-Thalassemia, Dominant Inclusion Body Type Details pageDisease Fetal Hemoglobin Quantitative Trait Locus 1 Details pageDisease Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome Details page
Do Class Name
genetic disease
Disease Type
diseasephenotype
Do Disease Class
genetic disease
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Beta-Thalassemia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Immune diseases;Nephrological diseases
Disease Name
Beta-Thalassemia, Dominant Inclusion Body Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases
Disease Name
Fetal Hemoglobin Quantitative Trait Locus 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Definition
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fDominant beta-thalassemia is a form of beta-thalassemia (see this term) resulting in moderate to severe anemia.Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cellMSH2017_2016_08_12:A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or SyndromeFinding