{
  "id": 20138,
  "label": "proximal symphalangism 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020733",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9802,
      "label": "proximal symphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2744,
        2903,
        18956
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008511"
    },
    {
      "id": 24246,
      "label": "NOG-related symphalangism spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2744,
        2903
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NOG-SSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion."
      },
      "child_count": 10,
      "reference_id": "MONDO:0100521"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9802,
      "label": "proximal symphalangism"
    },
    {
      "id": 24246,
      "label": "NOG-related symphalangism spectrum disorder"
    }
  ]
}