DiseaseID 10624
高同型半胱氨酸血症
disease
NCI2016_NICHD_1602D:Abnormally high level of homocysteine in the blood.|NCI2016_02D:A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased lev
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Disease: 1Symptom: 1Target: 12Links: 13
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 10624
- Core Entity Id
- 67858
- Source Entity Count
- 1
- Preferred Name
- Homocysteinemia
- Name Cn
- 高同型半胱氨酸血症
- Name Pinyin
- Gao Tong Xing Ban Guang An Suan Xue Zheng
- Name En
- Homocysteinemia
- 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_NICHD_1602D:Abnormally high level of homocysteine in the blood.|NCI2016_02D:A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.|MSH2017_2016_08_12:Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Homocysteinemia
Role
preferred
Name
Hyperhomocysteinemia
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS010446HBDIS021496
Me Sh
D020138
Omim
603174
Umls
C0598608
Sym Map
SMDE09614
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0598608C3495426
Umls Sty
T047
Me Sh Class
C16C18
Tcmbank Disease
150822088722202
Itcmdb Generated
ITX-DISEASE-D1B125E4CF0B
Attributes
Merged source attributes and domain-specific metadata.
Version
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_NICHD_1602D:Abnormally high level of homocysteine in the blood.|NCI2016_02D:A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.|MSH2017_2016_08_12:Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
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