{
  "id": 11437,
  "label": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010263",
  "properties": {
    "xrefs": [
      "DOID:0111860",
      "GARD:0016761",
      "MEDGEN:337424",
      "MESH:C564570",
      "OMIM:300194",
      "Orphanet:86818",
      "SCTID:720982007",
      "UMLS:C1846242"
    ],
    "synonyms": [
      "AMME complex",
      "AMME syndrome",
      "ATS-MR",
      "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis",
      "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis",
      "Ats-Mr",
      "chromosome Xq22.3 telomeric deletion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 11673,
      "label": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        11437
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111859",
          "GARD:0024736",
          "MEDGEN:934777",
          "OMIM:300990",
          "Orphanet:688581",
          "UMLS:C4310810"
        ],
        "synonyms": [
          "MFHIEN",
          "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
          "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive",
          "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010516"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}