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]