{
  "id": 17392,
  "label": "ATR-X-related syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016980",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 11676,
      "label": "alpha thalassemia-X-linked intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17392,
        19710
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010519"
    },
    {
      "id": 11809,
      "label": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17392
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080982",
          "GARD:0003521",
          "MEDGEN:1676827",
          "MESH:C537445",
          "OMIM:309580",
          "Orphanet:73220",
          "Orphanet:93970",
          "Orphanet:93971",
          "Orphanet:93972",
          "Orphanet:93973",
          "Orphanet:93974",
          "SCTID:717763008",
          "SCTID:719212004",
          "UMLS:C4759781"
        ],
        "synonyms": [
          "Carpenter-Waziri syndrome",
          "Chudley Lowry Hoar syndrome",
          "Chudley-Lowry syndrome",
          "Chudley-Lowry-Hoar syndrome",
          "Holmes-Gang syndrome",
          "MRXHF1",
          "SFMS",
          "Smith-Fineman-Myers syndrome",
          "X-linked intellectual disability-hypotonic face syndrome",
          "XLMR-hypotonic facies syndrome",
          "intellectual disability-hypotonic facies syndrome, X-linked, 1",
          "intellectual disability-hypotonic facies syndrome, X-linked, type 1",
          "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive",
          "mental retardation-hypotonic facies syndrome, X-linked, type 1",
          "Juberg Marsidi syndrome",
          "Juberg-Marsidi mental retardation syndrome",
          "Juberg-Marsidi syndrome",
          "Chudley intellectual disability syndrome",
          "Chudley mental retardation syndrome",
          "Chudley syndrome 1",
          "JMS",
          "SFM1",
          "Smith Fineman Myers syndrome 1",
          "X-linked hypogonadism gynecomastia intellectual disability",
          "X-linked hypogonadism gynecomastia mental retardation",
          "intellectual disability Smith Fineman Myers type",
          "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism",
          "intellectual disability-hypotonic facies syndrome X-linked, 1",
          "mental retardation Smith Fineman Myers type",
          "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism",
          "mental retardation-hypotonic facies syndrome X-linked, 1",
          "mental retardation-hypotonic facies syndrome, X-linked, 1",
          "mental retradation, X-linked with Growth delay, deafness, microgenitalism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010663"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}