DiseaseID 2296
范可尼贫血A互补群
disease
NCI2016_02D:Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi ane
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Disease: 1Symptom: 12Target: 23Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2296
- Core Entity Id
- 2584
- Source Entity Count
- 1
- Preferred Name
- Estren-Dameshek Variant of Fanconi Anemia
- Name Cn
- 范可尼贫血A互补群
- Name Pinyin
- Fan Ke Ni Pin Xue A Hu Bu Qun
- Name En
- Fanconi Anemia, Complementation Group A
- 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; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Estren-Dameshek Variant of Fanconi Anemia
Role
preferred
Name
Estren-Dameshek Variant Of Fanconi Pancytopenia
Role
preferred
Name
Fanconi Anemia, Complementation Group A
Role
preferred
Name
Fanconi Anemia, Complementation Group A (Disorder)
Role
preferred
Name
FA
Role
alias
Name
FANCA
Role
alias
Name
FANCONI ANEMIA
Role
alias
Name
FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT
Role
alias
Name
Fanconi Anemia Complementation Group A
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS021411HBDIS028942HBDIS028943
Omim
227650
Umls
C1856796C1856797C3469521
Sym Map
SMDE01790SMDE08514SMDE08515SMDE08665
Do Class
DOID:630DOID:7
Dis Ge Net
C1856796C1856797C3469521
Umls Sty
T047
Me Sh Class
C15C16C18
Etcm Disease
Fanconi Anemia, Complementation Group a
Tcmbank Disease
18011
Itcmdb Generated
ITX-DISEASE-47C5EEBA34C4ITX-DISEASE-C153AB449C67
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Fanconi Anemia, Complementation Group a Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Fanconi Anemia, Complementation Group a
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Definition
NCI2016_02D:Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome