DiseaseID 2267
遗传性椭圆形红细胞增多症1型
disease
MSH2017_2016_08_12:An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.|CSP2006:intrinsic defect of erythrocytes inherited as an autosomal dom
Relationship Network
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Disease: 1Herb: 1Symptom: 1Target: 19Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2267
- Core Entity Id
- 2552
- Source Entity Count
- 1
- Preferred Name
- Elliptocytosis 1
- Name Cn
- 遗传性椭圆形红细胞增多症1型
- Name Pinyin
- Yi Chuan Xing Tuo Yuan Xing Hong Xi Bao Zeng Duo Zheng 1 Xing
- Name En
- Hereditary Elliptocytosis 1
- 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
- disease of anatomical entity
- Hpo Class
- Abnormality of blood and blood-forming tissues
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of blood and blood-forming tissues
- Do Class Name
- disease of anatomical entity
- Disease Definition
- MSH2017_2016_08_12:An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.|CSP2006:intrinsic defect of erythrocytes inherited as an autosomal dominant trait; erythrocytes assume an oval or elliptical shape.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Elliptocytosis 1
Role
preferred
Name
Elliptocytosis, Hereditary
Role
preferred
Name
Elliptocytosis 2 (Disorder)
Role
preferred
Name
Elliptocytosis Found
Role
preferred
Name
Hereditary Pyropoikilocytosis
Role
preferred
Name
4.1- TRAIT
Role
alias
Name
4.1-MINUS TRAIT
Role
alias
Name
EL1
Role
alias
Name
ELLIPTOCYTOSIS, RHESUS-LINKED TYPE
Role
alias
Name
Elliptocytosis
Role
alias
Name
Elliptocytosis 2
Role
alias
Name
Hereditary Elliptocytosis
Role
alias
Name
Ovalocytosis
Role
alias
Name
PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
Role
alias
Name
Pyropoikilocytosis
Role
alias
Name
Pyropoikilocytosis, Hereditary
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004445HP:0004839
Herb
HBDIS000894HBDIS009261HBDIS009822HBDIS028898HBDIS029154
Me Sh
D004612
Omim
130600266140611804
Umls
C0013902C2678497
Icd10
D58.1
Sym Map
SMDE00534SMDE08191
Do Class
DOID:7
Dis Ge Net
C0013902C0427480C0520739C1851741C2678497
Umls Sty
T033T047
Hpo Class
HP:0001871
Me Sh Class
C15C16
Etcm Disease
Elliptocytosis 1
Tcmbank Disease
133422618732424
Itcmdb Generated
ITX-DISEASE-FCA7769D0CFB
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Elliptocytosis 1 Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of blood and blood-forming tissues
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of blood and blood-forming tissues
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Elliptocytosis 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
MSH2017_2016_08_12:An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.|CSP2006:intrinsic defect of erythrocytes inherited as an autosomal dominant trait; erythrocytes assume an oval or elliptical shape.
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