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Amino Acid Metabolism, Inborn Errors

Go to external page http://purl.bioontology.org/ontology/MESH/D000592

Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.

Instance info

Synonyms

Congenital Amino Acidopathy, Aminosäurenstoffwechsel, angeborene Störungen (DE), Amino Acid Metabolism, Inborn Error, Amino Acid Metabolism Disorders, Inborn, Inborn Amino Acidopathy, Inborn Amino Acidopathies, Amino Acidopathies, Congenital, Amino Acidopathy, Congenital, Aminoazidopathien, kongenitale (DE), Amino Acidopathies, Inborn, Aminoazidopathien, angeborene (DE), Amino Acid Metabolism, Inherited Disorders, Congenital Amino Acidopathies, Inherited Errors of Amino Acid Metabolism, Inborn Errors, Amino Acid Metabolism, Amino Acidopathy, Inborn

AN

coord IM with specific amino acid /metab (IM); DF: AA METAB INBORN ERR

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

HN

1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964

MDA

19990101

MMR

20060705

MN

C18.452.648.100,C16.320.565.100

PM

1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964

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/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,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/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,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/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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,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

SIB

http://purl.bioontology.org/ontology/MESH/D020739,http://purl.bioontology.org/ontology/MESH/D008052,http://purl.bioontology.org/ontology/MESH/D018901,http://purl.bioontology.org/ontology/MESH/D011686,http://purl.bioontology.org/ontology/MESH/D011371,http://purl.bioontology.org/ontology/MESH/D015499,http://purl.bioontology.org/ontology/MESH/D016464,http://purl.bioontology.org/ontology/MESH/D008664,http://purl.bioontology.org/ontology/MESH/D043202,http://purl.bioontology.org/ontology/MESH/D030401,http://purl.bioontology.org/ontology/MESH/D028226,http://purl.bioontology.org/ontology/MESH/D020157,http://purl.bioontology.org/ontology/MESH/D006933,http://purl.bioontology.org/ontology/MESH/D002239

TERMUI

T366010,T366032,T366011,T366033,T366030,T366031,T001792,T366029,T001791

TH

NLM (1991),NLM (2000),NLM (1966)

cui

C0750905,C0002514

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C535328,http://purl.bioontology.org/ontology/MESH/C535407,http://purl.bioontology.org/ontology/MESH/C535803,http://purl.bioontology.org/ontology/MESH/C537426,http://purl.bioontology.org/ontology/MESH/C565659,http://purl.bioontology.org/ontology/MESH/C562669,http://purl.bioontology.org/ontology/MESH/C565453,http://purl.bioontology.org/ontology/MESH/C564683,http://purl.bioontology.org/ontology/MESH/C563085,http://purl.bioontology.org/ontology/MESH/C565386,http://purl.bioontology.org/ontology/MESH/C563080,http://purl.bioontology.org/ontology/MESH/C538324,http://purl.bioontology.org/ontology/MESH/C538246,http://purl.bioontology.org/ontology/MESH/C537358,http://purl.bioontology.org/ontology/MESH/C537236,http://purl.bioontology.org/ontology/MESH/C538320,http://purl.bioontology.org/ontology/MESH/C536582,http://purl.bioontology.org/ontology/MESH/C538167,http://purl.bioontology.org/ontology/MESH/C537437,http://purl.bioontology.org/ontology/MESH/C562659,http://purl.bioontology.org/ontology/MESH/C565968,http://purl.bioontology.org/ontology/MESH/C562658,http://purl.bioontology.org/ontology/MESH/C563467,http://purl.bioontology.org/ontology/MESH/C562377,http://purl.bioontology.org/ontology/MESH/C564157,http://purl.bioontology.org/ontology/MESH/C565960,http://purl.bioontology.org/ontology/MESH/C537361,http://purl.bioontology.org/ontology/MESH/C537360,http://purl.bioontology.org/ontology/MESH/C535541,http://purl.bioontology.org/ontology/MESH/C567192,http://purl.bioontology.org/ontology/MESH/C562818,http://purl.bioontology.org/ontology/MESH/C536836,http://purl.bioontology.org/ontology/MESH/C562803,http://purl.bioontology.org/ontology/MESH/C536835,http://purl.bioontology.org/ontology/MESH/C535307,http://purl.bioontology.org/ontology/MESH/C536832,http://purl.bioontology.org/ontology/MESH/C536479,http://purl.bioontology.org/ontology/MESH/C564747,http://purl.bioontology.org/ontology/MESH/C536239,http://purl.bioontology.org/ontology/MESH/C536833,http://purl.bioontology.org/ontology/MESH/C562687,http://purl.bioontology.org/ontology/MESH/C564743,http://purl.bioontology.org/ontology/MESH/C562682,http://purl.bioontology.org/ontology/MESH/C566402,http://purl.bioontology.org/ontology/MESH/C565278,http://purl.bioontology.org/ontology/MESH/C566487,http://purl.bioontology.org/ontology/MESH/C565630,http://purl.bioontology.org/ontology/MESH/C538141,http://purl.bioontology.org/ontology/MESH/C536081,http://purl.bioontology.org/ontology/MESH/C537972,http://purl.bioontology.org/ontology/MESH/C538224,http://purl.bioontology.org/ontology/MESH/C535674,http://purl.bioontology.org/ontology/MESH/C535312,http://purl.bioontology.org/ontology/MESH/C538385,http://purl.bioontology.org/ontology/MESH/C535434,http://purl.bioontology.org/ontology/MESH/C563009,http://purl.bioontology.org/ontology/MESH/C536524,http://purl.bioontology.org/ontology/MESH/C565904,http://purl.bioontology.org/ontology/MESH/C562876,http://purl.bioontology.org/ontology/MESH/C536921,http://purl.bioontology.org/ontology/MESH/C562674,http://purl.bioontology.org/ontology/MESH/C564973,http://purl.bioontology.org/ontology/MESH/C565466,http://purl.bioontology.org/ontology/MESH/C562670,http://purl.bioontology.org/ontology/MESH/C567006,http://purl.bioontology.org/ontology/MESH/C565387,http://purl.bioontology.org/ontology/MESH/C562680,http://purl.bioontology.org/ontology/MESH/C565471,http://purl.bioontology.org/ontology/MESH/C567132,http://purl.bioontology.org/ontology/MESH/C565390,http://purl.bioontology.org/ontology/MESH/C535322

tui

T047

Instance relations

Types