{
  "id": 11673,
  "label": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010516",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 11437,
      "label": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0010263"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 11437,
      "label": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
    }
  ]
}