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Liddle Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D056929

Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.

Term info

Label

Liddle Syndrome

Synonyms
  • Liddle-Syndrom (DE)
  • Pseudoaldosteronism
  • Pseudoaldosteronismus (DE)
  • Syndrome, Liddle
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20100101

FX

D053503

HN

2010

MDA

20090706

MMR

20120703

MN

C18.452.648.861.698, C16.320.565.861.698, C12.777.419.815.683, C13.351.968.419.815.683

PM

2010

QB

http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D053503

SIB

http://purl.bioontology.org/ontology/MESH/D001477, http://purl.bioontology.org/ontology/MESH/D053579, http://purl.bioontology.org/ontology/MESH/D006030, http://purl.bioontology.org/ontology/MESH/D005198, http://purl.bioontology.org/ontology/MESH/D000608, http://purl.bioontology.org/ontology/MESH/D000141, http://purl.bioontology.org/ontology/MESH/D009800, http://purl.bioontology.org/ontology/MESH/D007015, http://purl.bioontology.org/ontology/MESH/D057973, http://purl.bioontology.org/ontology/MESH/D011546

TERMUI

T747161, T747105

TH

ORD (2010), OMIM (2013), NLM (2010)

cui

C0221043

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations