DiseaseID 25783
先天性糖基化障碍IIc型
Congenital Disorder Of Glycosylation, Type Iic
NCI2016_02D:Leukocyte Adhesion Deficiency, Type II. An inherited disease affecting the metabolism of fucose, which affects the expression of the sialyl Lewis X antigen, the fucose-containing ligand for E- and P-selectins
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Disease: 1Symptom: 4Target: 15Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25783
- Core Entity Id
- 118351
- Source Entity Count
- 1
- Preferred Name
- Congenital Disorder Of Glycosylation, Type Iic
- Name Cn
- 先天性糖基化障碍IIc型
- Name Pinyin
- Xian Tian Xing Tang Ji Hua Zhang Ai Iic Xing
- Name En
- Congenital Disorder Of Glycosylation, Type Iic
- 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_02D:Leukocyte Adhesion Deficiency, Type II. An inherited disease affecting the metabolism of fucose, which affects the expression of the sialyl Lewis X antigen, the fucose-containing ligand for E- and P-selectins, resulting in a deficiency in neutrophil adhesion. SYN Sialyl-Lewis X defect.|JABL99:An association of unusual facies, delayed mental and physical development, microcephaly, cortical atrophy, seizures seizures, hypotonia, and neutrophilia with recurrent infections.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Disorder Of Glycosylation, Type Iic
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0398739
Sym Map
SMDE00327
Etcm Disease
Congenital Disorder of Glycosylation, Type Iic
Itcmdb Generated
ITX-DISEASE-0A5DB7283D8D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Congenital Disorder of Glycosylation, Type Iic Details page
Basic Information
Disease Name
Congenital Disorder of Glycosylation, Type Iic
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Bone diseases;Cardiovascular diseases;Ear diseases;Endocrine diseases;Eye diseases;Gastrointestinal Diseases;Immune diseases;Liver diseases;Mental diseases;Muscle diseases;Nephrological diseases;Neuronal diseases;Skin diseases;Smell/Taste diseases
Disease Definition
NCI2016_02D:Leukocyte Adhesion Deficiency, Type II. An inherited disease affecting the metabolism of fucose, which affects the expression of the sialyl Lewis X antigen, the fucose-containing ligand for E- and P-selectins, resulting in a deficiency in neutrophil adhesion. SYN Sialyl-Lewis X defect.|JABL99:An association of unusual facies, delayed mental and physical development, microcephaly, cortical atrophy, seizures seizures, hypotonia, and neutrophilia with recurrent infections.