{
  "id": 18417,
  "label": "HSD10 disease, infantile type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018322",
  "properties": {
    "xrefs": [
      "GARD:0017622",
      "MEDGEN:1843150",
      "Orphanet:391428",
      "UMLS:C5680025"
    ],
    "synonyms": [
      "2-methyl-3-hydroxybutyric aciduria, classic type",
      "2-methyl-3-hydroxybutyric aciduria, infantile type",
      "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type",
      "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type",
      "HSD10 deficiency, classic type",
      "HSD10 deficiency, infantile type",
      "HSD10 disease, classic type",
      "MHBD deficiency, classic type",
      "MHBD deficiency, infantile type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age."
  },
  "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"
    }
  ]
}