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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inborn disorder of amino acid metabolism
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Accession:EFO:MONDO:0004736 term browser browse the term
Definition:An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Synonyms:exact_synonym: inborn cellular amino acid metabolic process disorder;   inborn error of amino acid metabolism;   inborn error of cellular amino acid metabolic process;   inborn errors of amino acid metabolism;   inherited amino acid metabolic disorder;   rare inborn error of cellular amino acid metabolic process
 related_synonym: amino acid metabolic disorder;   amino acid metabolism, inborn errors;   inborn amino acid metabolism disorder
 alt_id: MONDO:0004736
 xref: DOID:9252;   GARD:6770;   ICD9:270;   ICD9:270.9;   MEDGEN:1857273;   MESH:D000592;   NCI:C97090;   SCTID:42930003;   UMLS:C5886841


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn disorder of amino acid metabolism 0
                Aminoacylase 1 deficiency 0
                Brunner syndrome 0
                adenine phosphoribosyltransferase deficiency 0
                adenylosuccinate lyase deficiency 0
                albinism + 0
                cerebral creatine deficiency syndrome + 0
                cystathioninuria 0
                gamma-amino butyric acid metabolism disorder + 0
                homocystinuria + 0
                hyperphenylalaninemia due to DNAJC12 deficiency 0
                hyperphenylalaninemia due to tetrahydrobiopterin deficiency + 0
                inborn disorder of amino acid transport + 0
                inborn disorder of aspartate family metabolism + 0
                inborn disorder of branched-chain amino acid metabolism + 0
                inborn disorder of histidine metabolism + 0
                inborn disorder of ornithine metabolism + 0
                inborn disorder of phenylalanine and tyrosine metabolism + 0
                inborn disorder of proline metabolism + 0
                inborn disorder of serine family metabolism + 0
                inborn disorder of tryptophan metabolism + 0
                inborn organic aciduria + 0
                systemic primary carnitine deficiency disease 0
                urea cycle disorder + 0
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