{
  "id": 11676,
  "label": "alpha thalassemia-X-linked intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010519",
  "properties": {
    "xrefs": [
      "DOID:0110030",
      "GARD:0005864",
      "MEDGEN:337145",
      "MESH:C538258",
      "NANDO:1200665",
      "NANDO:2100223",
      "NANDO:2200839",
      "NCIT:C118631",
      "NORD:753",
      "OMIM:301040",
      "Orphanet:847",
      "SCTID:715342005",
      "UMLS:C1845055"
    ],
    "synonyms": [
      "ATR, nondeletion type",
      "ATR-X syndrome",
      "Alpha Thalassemia X-linked Intellectual Disability Syndrome",
      "Alpha thalassemia X-linked intellectual disability syndrome",
      "Alpha thalassemia X-linked mental retardation syndrome",
      "Alpha thalassemia/intellectual disability syndrome X-linked",
      "Alpha thalassemia/mental retardation syndrome X-linked",
      "alpha thalassemia-X-linked intellectual disability syndrome",
      "alpha-thalassemia/intellectual disability syndrome nondeletion type",
      "alpha-thalassemia/mental retardation syndrome, X-linked dominant",
      "ALPHA-thalassemia/intellectual disability syndrome, X-linked",
      "ALPHA-thalassemia/mental retardation syndrome, X-linked",
      "ATR, Nondeletion type",
      "ATRX",
      "ATRX syndrome",
      "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked",
      "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked",
      "Alpha-thalassemia X-linked intellectual disability syndrome",
      "Alpha-thalassemia-X-linked intellectual disability syndrome",
      "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type",
      "Alpha-thalassemia/mental retardation syndrome, Nondeletion type",
      "XLMR hypotonic face syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17392,
      "label": "ATR-X-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:263355"
        ],
        "synonyms": [
          "ATR-X-related syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A X-linked intellectual disability characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay/intellectual disability."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016980"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17392,
      "label": "ATR-X-related syndrome"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}