{
  "id": 18418,
  "label": "HSD10 disease, neonatal type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018323",
  "properties": {
    "xrefs": [
      "GARD:0017623",
      "MEDGEN:1842355",
      "Orphanet:391457",
      "UMLS:C5680026"
    ],
    "synonyms": [
      "2-methyl-3-hydroxybutyric aciduria, neonatal type",
      "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type",
      "HSD10 deficiency, neonatal type",
      "MHBD deficiency, neonatal type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11497,
      "label": "HSD10 mitochondrial disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060810",
          "GARD:0010716",
          "MEDGEN:781653",
          "MESH:C536080",
          "MESH:C564560",
          "OMIM:300220",
          "OMIM:300438",
          "Orphanet:391417",
          "SCTID:791000124107",
          "UMLS:C3266731"
        ],
        "synonyms": [
          "17-beta-hydroxysteroid dehydrogenase 10 deficiency",
          "17-beta-hydroxysteroid dehydrogenase X deficiency",
          "2-methyl-3-hydroxybutyric aciduria",
          "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency",
          "3-hydroxyacyl-CoA dehydrogenase 2 deficiency",
          "HSD10 deficiency",
          "HSD10 mitochondrial disease",
          "HSD10 mitochondrial disease, X-linked dominant",
          "HSD10MD",
          "HSD17B10 deficiency",
          "MHBD deficiency",
          "MRXS10",
          "chorioathetosis with mental retardation and abnormal behavior",
          "chorioathetosis with mental retardation and abnormal behaviour",
          "mental retardation with chorioathetosis and abnormal behavior",
          "mental retardation with chorioathetosis and abnormal behaviour",
          "mental retardation, X-linked, syndromic 10",
          "mental retardation, X-linked, syndromic type 10",
          "HSD10 deficiency, atypical type",
          "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome",
          "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome",
          "syndromic X-linked intellectual disability type 10",
          "17 beta-hydroxysteroid dehydrogenase type 10 deficiency",
          "2M3HBA",
          "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency",
          "3H2MBD deficiency",
          "hydroxyacyl-CoA dehydrogenase II deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010327"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11497,
      "label": "HSD10 mitochondrial disease"
    }
  ]
}