{
  "url": "https://dantelabs.com/traits/ethylmalonic-aciduria",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "ethylmalonic-aciduria",
    "id": "HP:0003219",
    "name": "Ethylmalonic aciduria",
    "definition": "The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ethe1",
        "symbol": "ETHE1",
        "hgnc": "HGNC:23287",
        "name": "ETHE1 persulfide dioxygenase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ethe1"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "hgnc": "HGNC:90",
        "name": "acyl-CoA dehydrogenase short chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acads"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "hgnc": "HGNC:20213",
        "name": "cytochrome c oxidase assembly factor COX16",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox16"
      },
      {
        "slug": "hspd1",
        "symbol": "HSPD1",
        "hgnc": "HGNC:5261",
        "name": "heat shock protein family D (Hsp60) member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspd1"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "hgnc": "HGNC:11449",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "hgnc": "HGNC:3481",
        "name": "electron transfer flavoprotein subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "hgnc": "HGNC:3482",
        "name": "electron transfer flavoprotein subunit beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "hgnc": "HGNC:3483",
        "name": "electron transfer flavoprotein dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfdh"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      }
    ]
  }
}