{
  "id": 19646,
  "label": "X small rings",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019926",
  "properties": {
    "xrefs": [
      "GARD:0019345",
      "MEDGEN:1641475",
      "Orphanet:96201",
      "SCTID:766760004",
      "UMLS:C4707824"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19578,
      "label": "inherited primary ovarian failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7067,
        16330,
        20362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019294",
          "MEDGEN:443920",
          "OMIMPS:311360",
          "Orphanet:95710",
          "UMLS:C2930861"
        ],
        "synonyms": [
          "hereditary primary ovarian failure",
          "inherited POI",
          "inherited premature ovarian failure",
          "inherited primary ovarian insufficiency",
          "non-acquired premature ovarian failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 164,
      "reference_id": "MONDO:0019852"
    },
    {
      "id": 24425,
      "label": "chromosome X disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19717
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome X is affected."
      },
      "child_count": 13,
      "reference_id": "MONDO:0700027"
    },
    {
      "id": 24487,
      "label": "ring chromosome disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070620",
          "GARD:0026357",
          "MESH:D012303",
          "NCIT:C3360"
        ],
        "synonyms": [
          "supernumerary circular chromosome"
        ],
        "definition": "Chromosomal disorder in which the chromosomal anomaly consists of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0700091"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19578,
      "label": "inherited primary ovarian failure"
    },
    {
      "id": 24425,
      "label": "chromosome X disorder"
    },
    {
      "id": 24487,
      "label": "ring chromosome disorder"
    }
  ]
}