Human Gene Set: HP_ETHYLMALONIC_ACIDURIA


Standard name HP_ETHYLMALONIC_ACIDURIA
Systematic name M36228
Brief description Ethylmalonic aciduria
Full description or abstract The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003219
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003219
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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