{
  "id": 24246,
  "label": "NOG-related symphalangism spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100521",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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"
    }
  ],
  "children": [
    {
      "id": 9775,
      "label": "stapes ankylosis with broad thumbs and toes",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012631",
          "MEDGEN:357104",
          "OMIM:184460",
          "Orphanet:140917",
          "SCTID:719305006",
          "UMLS:C1866656",
          "icd11.foundation:387089262"
        ],
        "synonyms": [
          "Teunissen-Cremers syndrome",
          "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly",
          "stapes ankylosis syndrome without symphalangism",
          "stapes ankylosis with BROAD thumb and toes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008484"
    },
    {
      "id": 9810,
      "label": "multiple synostoses syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18123,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081317",
          "GARD:0015115",
          "MEDGEN:90977",
          "OMIM:186500",
          "UMLS:C0342282"
        ],
        "synonyms": [
          "NOG multiple synostoses syndrome",
          "multiple synostoses syndrome 1",
          "multiple synostoses syndrome caused by mutation in NOG",
          "multiple synostoses syndrome caused by mutation in nog",
          "multiple synostoses syndrome type 1",
          "nog multiple synostoses syndrome",
          "SYNS1",
          "Wl syndrome",
          "deafness-symphalangism syndrome of Herrmann",
          "facioaudiosymphalangism syndrome",
          "symphalangism brachydactyly syndrome",
          "symphalangism-brachydactyly syndrome",
          "synostoses multiple with brachydactyly",
          "synostoses, multiple, with brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008519"
    },
    {
      "id": 9812,
      "label": "tarsal-carpal coalition syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18956,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050789",
          "GARD:0009225",
          "ICD9:756.9",
          "MEDGEN:348322",
          "OMIM:186570",
          "Orphanet:1412",
          "SCTID:702312009",
          "UMLS:C1861305",
          "icd11.foundation:1118132902"
        ],
        "synonyms": [
          "tarsal-carpal coalition syndrome",
          "TCC",
          "synostosis of talus and calcaneus with short stature",
          "tarsal carpal coalition syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008521"
    },
    {
      "id": 13699,
      "label": "brachydactyly type B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19462,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110975",
          "GARD:0016963",
          "MEDGEN:409880",
          "OMIM:611377",
          "Orphanet:140908",
          "SCTID:770406002",
          "UMLS:C1969652",
          "icd11.foundation:891810441"
        ],
        "synonyms": [
          "BDB2",
          "brachydactyly, type B2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012658"
    },
    {
      "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"
    }
  ]
}