DiseaseID 18039
白三烯C4合酶缺乏症
disease
SNOMEDCT_US_2016_09_01:An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
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Disease: 1Target: 1Links: 1
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 18039
- Core Entity Id
- 76367
- Source Entity Count
- 1
- Preferred Name
- Leukotriene C4 Synthase Deficiency
- Name Cn
- 白三烯C4合酶缺乏症
- Name Pinyin
- Bai San Xi C4 He Mei Que Fa Zheng
- Name En
- Leukotriene C4 Synthase Deficiency
- 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
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Leukotriene C4 Synthase Deficiency
Role
preferred
Name
LTC4 SYNTHASE DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS021211
Omim
614037
Umls
C3279662
Sym Map
SMDE03861
Dis Ge Net
C3279662
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
3251
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
SNOMEDCT_US_2016_09_01:An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome