{
  "id": 2744,
  "label": "symphalangism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000151",
  "properties": {
    "xrefs": [
      "MEDGEN:1846284",
      "SCTID:253975004",
      "UMLS:C5848178"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    }
  ],
  "children": [
    {
      "id": 9797,
      "label": "symphalangism of toes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2744,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:396129",
          "MESH:C566101",
          "OMIM:185600",
          "UMLS:C1861418"
        ],
        "synonyms": [
          "symphalangism of toes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008506"
    },
    {
      "id": 9799,
      "label": "symphalangism, C. S. Lewis type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2744,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:396126",
          "MESH:C566100",
          "OMIM:185650",
          "UMLS:C1861404"
        ],
        "synonyms": [
          "symphalangism, C. S. Lewis type",
          "thumbs, stiff"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008508"
    },
    {
      "id": 9800,
      "label": "distal symphalangism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2744,
        5714,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005074",
          "HP:0100263",
          "MEDGEN:350018",
          "MESH:C566099",
          "OMIM:185700",
          "Orphanet:3248",
          "UMLS:C1861401",
          "icd11.foundation:1737945585"
        ],
        "synonyms": [
          "distal symphalangism",
          "distal symphalangism (disease)",
          "Sym2",
          "symphalangism, distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008509"
    },
    {
      "id": 9801,
      "label": "symphalangism with multiple anomalies of hands and feet",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2744,
        5714,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005077",
          "MEDGEN:348859",
          "MESH:C566098",
          "OMIM:185750",
          "Orphanet:3246",
          "SCTID:732955001",
          "UMLS:C1861391"
        ],
        "synonyms": [
          "Learman syndrome",
          "symphalangism with multiple anomalies of hands and feet"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008510"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6893,
      "label": "skeletal system disorder"
    }
  ]
}