DiseaseID 8836
表观盐皮质激素过多症
disease
NCI2016_NICHD_1602D:An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.|NCI2016_02D:An au
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Disease: 1Formula: 7Herb: 7Symptom: 1Target: 21Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 8836
- Core Entity Id
- 65824
- Source Entity Count
- 1
- Preferred Name
- Apparent Mineralocorticoid Excess
- Name Cn
- 表观盐皮质激素过多症
- Name Pinyin
- Biao Guan Yan Pi Zhi Ji Su Guo Duo Zheng
- Name En
- Apparent Mineralocorticoid Excess
- 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:An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.|NCI2016_02D:An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.(NICHD)|MSH2017_2016_08_12:A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Apparent Mineralocorticoid Excess
Role
preferred
Name
Mineralocorticoid Excess Syndrome, Apparent
Role
preferred
Name
Apparent Mineralocorticoid Excess Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008008HBDIS022759
Me Sh
D043204
Omim
218030
Umls
C0342488C2936861C3887949
Sym Map
SMDE03152SMDE11030
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0342488C3887949
Umls Sty
T047
Me Sh Class
C16C18
Etcm Disease
Apparent Mineralocorticoid Excess
Tcmbank Disease
252807837
Itcmdb Generated
ITX-DISEASE-F785E33584A9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Apparent Mineralocorticoid Excess Details page
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
Basic Information
Disease Name
Apparent Mineralocorticoid Excess
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Nephrological diseases
Disease Definition
NCI2016_NICHD_1602D:An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.|NCI2016_02D:An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.(NICHD)|MSH2017_2016_08_12:A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.SNOMEDCT_US_2016_09_01:A rare autosomal recessive disorder characterized by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia.|SNOMEDCT_US_2016_09_01:A rare autosomal recessive disorder characterised by very early-onset and severe hypertension, low renin levels, low aldosterone, metabolic alkalosis, hypernatraemia, and hypokalaemia.
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