DiseaseID 5001
假性醛固酮减少症
disease
NCI2016_02D:An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wa
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Disease: 1Symptom: 8Target: 12Links: 20
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5001
- Core Entity Id
- 61435
- Source Entity Count
- 1
- Preferred Name
- Pseudohypoaldosteronism
- Name Cn
- 假性醛固酮减少症
- Name Pinyin
- Jia Xing Quan Gu Tong Jian Shao Zheng
- Name En
- Pseudohypoaldosteronism
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the endocrine system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Abnormality of the endocrine system
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.|MSH2017_2016_08_12:A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.|HPO2016_07_04:A state of renal tubular unresponsiveness or resistance to the action of aldosterone. [HPO:probinson]
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pseudohypoaldosteronism
Role
preferred
Name
Hyperpotassemia And Hypertension, Familial
Role
preferred
Name
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Role
preferred
Name
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Role
preferred
Name
Pseudohypoaldosteronism, Type Ii
Role
preferred
Name
Pseudohypoaldosteronism, Type Iia
Role
preferred
Name
Pseudohypoaldosteronism, Type I
Role
preferred
Name
Autosomal Dominant Pseudohypoaldosteronism Type 1
Role
alias
Name
Autosomal Recessive Pseudohypoaldosteronism Type 1
Role
alias
Name
Gordon Hyperkalemia-Hypertension Syndrome
Role
alias
Name
PHA I, AUTOSOMAL DOMINANT
Role
alias
Name
PHA I, AUTOSOMAL RECESSIVE
Role
alias
Name
PHA1A
Role
alias
Name
PHA1B
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0008242
Herb
HBDIS002508HBDIS006312HBDIS014256HBDIS014257HBDIS014258HBDIS015858HBDIS019661
Me Sh
D011546
Omim
177735264350
Umls
C0033805C1449842C1449843C1449844C1840389C2713447
Sym Map
SMDE00087SMDE02004SMDE09647SMDE12516SMDE12517SMDE12518
Do Class
DOID:630DOID:7
Dis Ge Net
C0033805C0268436C1449842C1449843C1449844C1840389C2713447
Umls Sty
T047
Hpo Class
HP:0000818
Me Sh Class
C12C13C16
Tcmbank Disease
14953155152351428111297973111372028342
Itcmdb Generated
ITX-DISEASE-880D9D2C9585ITX-DISEASE-95C2259AE392ITX-DISEASE-B782F21E7E35ITX-DISEASE-C83AA2813A9E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the endocrine system
Do Disease Class
disease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the endocrine system
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.|MSH2017_2016_08_12:A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.|HPO2016_07_04:A state of renal tubular unresponsiveness or resistance to the action of aldosterone. [HPO:probinson]NCI2016_NICHD_1602D:A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels.|NCI2016_02D:A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels.(NICHD)|MSH2017_2016_08_12:Autosomal dominant syndrome of renal electrolyte transport dysfunctions. The clinical features include salt-sensitive hypertension, renal HYPERKALEMIA without sodium wasting, normal glomerular filtration rate and metabolic acidosis (hyperchloremic acidemia and HYPERCALCIURIA). Wnk1 and Wnk4 mutations are responsible for the disorder.SNOMEDCT_US_2016_09_01:An autosomal dominant disease characterized by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloremic metabolic acidosis.|SNOMEDCT_US_2016_09_01:An autosomal dominant disease characterised by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloraemic metabolic acidosis.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome