DiseaseID 2038
硫羟乳酸-半胱氨酸二硫醚尿症
disease
JABL99:Mercaptolactate-cysteine disulfiduria with mental retardation, seizures, flat nasal bridge, and highly arched palate.
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Symptom: 3Target: 1Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2038
- Core Entity Id
- 2293
- Source Entity Count
- 1
- Preferred Name
- Mercaptolactate-Cysteine Disulfiduria
- Name Cn
- 硫羟乳酸-半胱氨酸二硫醚尿症
- Name Pinyin
- Liu Qiang Ru Suan - Ban Guang An Suan Er Liu Mi Niao Zheng
- Name En
- Mercaptolactate-Cysteine Disulfiduria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- 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
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Mercaptolactate-cysteine disulfiduria with mental retardation, seizures, flat nasal bridge, and highly arched palate.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mercaptolactate-Cysteine Disulfiduria
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS028596
Omim
249650
Umls
C0796055
Sym Map
SMDE10910
Dis Ge Net
C0796055
Umls Sty
T047
Me Sh Class
C16C18
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:Mercaptolactate-cysteine disulfiduria with mental retardation, seizures, flat nasal bridge, and highly arched palate.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease