{
  "id": 11620,
  "label": "syndromic X-linked intellectual disability Nascimento type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010461",
  "properties": {
    "xrefs": [
      "DOID:0060820",
      "GARD:0017005",
      "MEDGEN:477095",
      "OMIM:300860",
      "Orphanet:163956",
      "UMLS:C3275464"
    ],
    "synonyms": [
      "X-linked intellectual disability-nail dystrophy-seizures syndrome",
      "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive",
      "intellectual disability, X-linked syndromic, Nascimento-type",
      "syndromic X-linked intellectual disability Nascimento type",
      "MRXSN",
      "X-linked intellectual disability, Nascimento type",
      "intellectual disability, X-linked, syndromic 30",
      "intellectual disability, X-linked, syndromic, Nascimento type",
      "mental retardation, X-linked, syndromic 30",
      "mental retardation, X-linked, syndromic, Nascimento type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures."
  },
  "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"
    }
  ]
}