{
  "id": 21481,
  "label": "Singleton-Merten syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024535",
  "properties": {
    "xrefs": [
      "GARD:0025417",
      "MEDGEN:899946",
      "OMIM:182250",
      "UMLS:C4225427"
    ],
    "synonyms": [
      "IFIH1 singleton-Merten dysplasia",
      "singleton-Merten dysplasia caused by mutation in IFIH1",
      "SGMRT1",
      "singleton-Merten syndrome 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9724,
      "label": "Singleton-Merten dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000122",
          "ICD9:733.29",
          "MEDGEN:98481",
          "MESH:C537343",
          "NORD:1718",
          "OMIMPS:182250",
          "Orphanet:85191",
          "SCTID:254114000",
          "UMLS:C0432254",
          "icd11.foundation:1084593684"
        ],
        "synonyms": [
          "Merten-Singleton syndrome",
          "Singleton Merten syndrome",
          "Singleton-Merten syndrome",
          "singleton Merten syndrome",
          "SGMRT1",
          "SM syndrome",
          "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition",
          "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008429"
    },
    {
      "id": 24657,
      "label": "IFIH1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026405"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700262"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9724,
      "label": "Singleton-Merten dysplasia"
    },
    {
      "id": 24657,
      "label": "IFIH1-related type 1 interferonopathy"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}