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autosomal dominant pseudohypoaldosteronism type 1

pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31
MedicalCondition rare_disease Q32136465
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autosomal dominant pseudohypoaldosteronism type 1

Summary

autosomal dominant pseudohypoaldosteronism type 1 is a rare disease[1].

Key Facts

  • autosomal dominant pseudohypoaldosteronism type 1's instance of is recorded as rare disease[2].
  • autosomal dominant pseudohypoaldosteronism type 1's instance of is recorded as class of disease[3].
  • autosomal dominant pseudohypoaldosteronism type 1's subclass of is recorded as pseudohypoaldosteronism[4].
  • autosomal dominant pseudohypoaldosteronism type 1's subclass of is recorded as autosomal dominant disease[5].
  • autosomal dominant pseudohypoaldosteronism type 1's OMIM ID is recorded as 177735[6].
  • autosomal dominant pseudohypoaldosteronism type 1's Disease Ontology ID is recorded as DOID:0060855[7].
  • autosomal dominant pseudohypoaldosteronism type 1's Orphanet ID is recorded as 756[8].
  • autosomal dominant pseudohypoaldosteronism type 1's Orphanet ID is recorded as 171871[9].
  • autosomal dominant pseudohypoaldosteronism type 1's health specialty is recorded as urology[10].
  • autosomal dominant pseudohypoaldosteronism type 1's genetic association is recorded as NR3C2[11].
  • autosomal dominant pseudohypoaldosteronism type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060855[12].
  • autosomal dominant pseudohypoaldosteronism type 1's exact match is recorded as http://identifiers.org/doid/DOID:0060855[13].
  • autosomal dominant pseudohypoaldosteronism type 1's UMLS CUI is recorded as C1449843[14].
  • autosomal dominant pseudohypoaldosteronism type 1's UMLS CUI is recorded as C1449842[15].
  • autosomal dominant pseudohypoaldosteronism type 1's GARD rare disease ID is recorded as 9145[16].
  • autosomal dominant pseudohypoaldosteronism type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
  • autosomal dominant pseudohypoaldosteronism type 1's Mondo ID is recorded as MONDO_0008329[18].
  • autosomal dominant pseudohypoaldosteronism type 1's UniProt disease ID is recorded as DI-01224[19].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . UMLS 2023. Retrieved . wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

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BibTeX @misc{4ortxyz_autosomal-dominant-pseudohypoaldosteronism-type-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal dominant pseudohypoaldosteronism type 1}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-dominant-pseudohypoaldosteronism-type-1}, note = {Accessed: 2026-05-03}}
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