{
  "id": 11809,
  "label": "intellectual disability-hypotonic facies syndrome, X-linked, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010663",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17392,
      "label": "ATR-X-related syndrome"
    }
  ]
}