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Renal Aminoacidurias

Go to external page http://purl.bioontology.org/ontology/MESH/D000608

A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.

Instance info

Synonyms

Aminoacidurias, Renal, Renal Aminoaciduria, Aminoazidurie, renale (DE), Renale Aminoazidurie (DE), Aminoaciduria, Renal

AN

coordinate IM with specific amino acid /urine (IM)

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

19650101

FX

D014556

HN

2007 (1963)

MDA

19990101

MMR

20060705

MN

C12.777.419.815.885,C18.452.648.861.885,C16.320.565.861.885,C13.351.968.419.815.885

PM

2007; see AMINOACIDURIA, RENAL 1965-2006, see AMINOACIDURIA 1963-1964

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,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/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,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/D014556

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/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/D056929,http://purl.bioontology.org/ontology/MESH/D011546

TERMUI

T657566,T001828

TH

NLM (2007),NLM (1965)

cui

C0002534

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C536171,http://purl.bioontology.org/ontology/MESH/C535874,http://purl.bioontology.org/ontology/MESH/C537934,http://purl.bioontology.org/ontology/MESH/C538321

tui

T047

Instance relations

Types