DiseaseID 7631
赖氨酸尿性蛋白不耐受
disease
NCI2016_02D:A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the
Relationship Network
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Disease: 1Symptom: 11Target: 11Links: 22
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7631
- Core Entity Id
- 64459
- Source Entity Count
- 1
- Preferred Name
- Lysinuric Protein Intolerance
- Name Cn
- 赖氨酸尿性蛋白不耐受
- Name Pinyin
- Lai An Suan Niao Xing Dan Bai Bu Nai Shou
- Name En
- Lysinuric Protein Intolerance
- 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
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lysinuric Protein Intolerance
Role
preferred
Name
DIBASIC AMINO ACIDURIA II
Role
alias
Name
LPI
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006396
Omim
222700
Umls
C0268647
Sym Map
SMDE02281
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0268647
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
16684
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body.
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