{
  "id": 11432,
  "label": "MEHMO syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010258",
  "properties": {
    "xrefs": [
      "DOID:0060801",
      "GARD:0009178",
      "MEDGEN:375855",
      "MESH:C537451",
      "OMIM:300148",
      "OMIM:300987",
      "Orphanet:85282",
      "SCTID:722037004",
      "UMLS:C1846278",
      "icd11.foundation:500681653"
    ],
    "synonyms": [
      "MEHMO",
      "MEHMO syndrome",
      "MEHMO syndrome, X-linked recessive",
      "MRXS20",
      "MRXS25",
      "MRXSBRK",
      "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome",
      "intellectual disability, X-linked, syndromic 20",
      "intellectual disability, X-linked, syndromic 25",
      "intellectual disability, X-linked, syndromic, Borck type",
      "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK",
      "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity",
      "mental retardation, X-linked, syndromic, Borck type",
      "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity",
      "syndromic X-linked intellectual disability 20",
      "syndromic X-linked intellectual disability 25",
      "X-linked MEHMO syndrome",
      "mental retardation, X-linked, syndromic 20",
      "mental retardation, X-linked, syndromic 25"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}