JSON

[X] inborn disorder of amino acid metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0004736

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [ NCIT:P378 ]

Synonyms: inherited amino acid metabolic disorder inborn errors of amino acid metabolism inborn cellular amino acid metabolic process disorder inborn error of cellular amino acid metabolic process inborn error of amino acid metabolism rare inborn error of cellular amino acid metabolic process

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1857273 (MONDO:equivalentTo)
  • MESH:D000592 (MONDO:equivalentTo)
  • GARD:6770 (MONDO:GARD)
  • ICD9:270.9 (DOID:9252)
  • UMLS:C5886841 (MONDO:equivalentTo)
  • SCTID:42930003 (MONDO:equivalentTo)
  • NCIT:C97090 (MONDO:equivalentTo)
  • DOID:9252 (MONDO:equivalentTo)
  • ICD9:270 (DOID:9252)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

exactMatch

http://purl.obolibrary.org/obo/DOID_9252

http://identifiers.org/mesh/D000592

http://linkedlifedata.com/resource/umls/id/C5886841

http://identifiers.org/snomedct/42930003

http://purl.obolibrary.org/obo/NCIT_C97090

http://identifiers.org/medgen/1857273

has related synonym

amino acid metabolism, inborn errors

inborn amino acid metabolism disorder

amino acid metabolic disorder

id

MONDO:0004736