{
  "id": 22957,
  "label": "HSD10 disease, atypical type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0037149",
  "properties": {
    "xrefs": [
      "GARD:0016749",
      "MEDGEN:1843277",
      "Orphanet:85295",
      "UMLS:C5680206"
    ],
    "synonyms": [
      "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome",
      "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome",
      "HSD10 deficiency, atypical type",
      "Syndromic X-linked intellectual disability type 10"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "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"
    }
  ]
}