{
  "id": 18211,
  "label": "Hoyeraal-Hreidarsson syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018045",
  "properties": {
    "xrefs": [
      "GARD:0000346",
      "MEDGEN:337518",
      "MESH:C536068",
      "Orphanet:3322",
      "SCTID:707276009",
      "UMLS:C1846142",
      "icd11.foundation:340127408"
    ],
    "synonyms": [
      "progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome",
      "Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia",
      "Hoyeraal Hreidarsson syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11737,
      "label": "dyskeratosis congenita, X-linked",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        23894
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070025",
          "GARD:0002007",
          "MEDGEN:216941",
          "NCIT:C126352",
          "OMIM:305000",
          "SCTID:708536001",
          "UMLS:C1148551"
        ],
        "synonyms": [
          "DKCX",
          "Hoyeraal Hreidarsson syndrome",
          "X-linked dyskeratosis congenita",
          "Zinsser-Cole-Engman syndrome",
          "dyskeratosis congenita, X-linked",
          "dyskeratosis congenita, X-linked, X-linked recessive",
          "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia",
          "cerebellar hypoplasia with pancytopenia",
          "dyskeratosis congenita X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "X-linked form of dyskeratosis congenita."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010584"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11737,
      "label": "dyskeratosis congenita, X-linked"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}