{
  "id": 9802,
  "label": "proximal symphalangism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008511",
  "properties": {
    "xrefs": [
      "DOID:0050788",
      "GARD:0008182",
      "HP:0100264",
      "MEDGEN:348856",
      "MESH:C536223",
      "OMIMPS:185800",
      "Orphanet:3250",
      "UMLS:C1861385",
      "icd11.foundation:49802338"
    ],
    "synonyms": [
      "proximal symphalangism",
      "proximal symphalangism (disease)",
      "symphalangism, Cushing type",
      "Strasburger-Hawkins-Eldridge syndrome",
      "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome",
      "hereditary absence of proximal interphalangeal joints",
      "hereditary absence of the proximal interphalangeal joints",
      "vessel’s syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2744,
      "label": "symphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1846284",
          "SCTID:253975004",
          "UMLS:C5848178"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000151"
    },
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 15133,
      "label": "symphalangism, proximal, 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080788",
          "GARD:0015942",
          "MEDGEN:815434",
          "OMIM:615298",
          "UMLS:C3809104"
        ],
        "synonyms": [
          "GDF5 proximal symphalangism (disease)",
          "proximal symphalangism (disease) caused by mutation in GDF5",
          "symphalangism, proximal, 1B",
          "symphalangism, proximal, type 1B",
          "SYM1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014125"
    },
    {
      "id": 20138,
      "label": "proximal symphalangism 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9802,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080787",
          "GARD:0025229",
          "MEDGEN:811492",
          "OMIM:185800",
          "UMLS:C3714899"
        ],
        "synonyms": [
          "Cushing symphalangism",
          "SYM1A",
          "Sym1",
          "hereditary absence of the proximal interphalangeal joints",
          "symphalangism, proximal, 1A",
          "symphalangism, proximal, type 1A"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020733"
    }
  ],
  "roots": [
    {
      "id": 2744,
      "label": "symphalangism"
    },
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}