DiseaseID 26705
重型先天性中性粒细胞减少症3型,常染色体隐性
Neutropenia, Severe Congenital, 3, Autosomal Recessive
NCI2016_NCI-GLOSS_1602D:An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections ca
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Disease: 1Symptom: 3Target: 12Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26705
- Core Entity Id
- 119273
- Source Entity Count
- 1
- Preferred Name
- Neutropenia, Severe Congenital, 3, Autosomal Recessive
- Name Cn
- 重型先天性中性粒细胞减少症3型,常染色体隐性
- Name Pinyin
- Zhong Xing Xian Tian Xing Zhong Xing Li Xi Bao Jian Shao Zheng 3 Xing , Chang Ran Se Ti Yin Xing
- Name En
- Neutropenia, Severe Congenital, 3, Autosomal Recessive
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_NCI-GLOSS_1602D:An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder).|NCI2016_02D:A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.|HPO2016_07_04:Congenital onset of a marked decrease in the number of granulocytes. [HPO:probinson]|HPO2016_07_04:A form of neutropenia with congenital onset. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1853118
Icd10
D70.0
Sym Map
SMDE04683
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_NCI-GLOSS_1602D:An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder).|NCI2016_02D:A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.|HPO2016_07_04:Congenital onset of a marked decrease in the number of granulocytes. [HPO:probinson]|HPO2016_07_04:A form of neutropenia with congenital onset. [HPO:probinson]