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pseudohypoaldosteronism type 2D

Go to external page http://purl.obolibrary.org/obo/MONDO_0013781

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: PHA2D pseudohypoaldosteronism type 2 caused by mutation in KLHL3 KLHL3 pseudohypoaldosteronism type 2

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:614495 (Orphanet:300525/e)
  • GARD:17372 (MONDO:GARD)
  • Orphanet:300525 (OMIM:614495)
  • icd11.foundation:1679339588 (MONDO:equivalentTo)
  • UMLS:C3469605 (MONDO:equivalentTo)
  • MEDGEN:483335 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, mondo_subtype, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_urinary_system_disorder, ordo_subtype_of_a_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, ordo_etiological_subtype, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_urinary_system_disorder, harrisons_view_member, harrisons_view_hereditary_disease

abbreviation
PHA2D [ MONDO:Lexical Orphanet:300525 https://omim.org/entry/614495 ]

exactMatch

https://omim.org/entry/614495

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1679339588

http://linkedlifedata.com/resource/umls/id/C3469605

http://www.orpha.net/ORDO/Orphanet_300525

http://identifiers.org/medgen/483335

has related synonym

pseudohypoaldosteronism, type IID

pseudohypoaldosteronism, type 2D

familial hyperkalemic hypertension

id

MONDO:0013781