{
  "id": 9724,
  "label": "Singleton-Merten dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008429",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24659,
        25593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021986",
          "MEDGEN:1843010",
          "Orphanet:481671",
          "UMLS:C5681250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type 1 interferonopathy that occurs during childhood."
      },
      "child_count": 24,
      "reference_id": "MONDO:0957408"
    }
  ],
  "children": [
    {
      "id": 15573,
      "label": "Singleton-Merten syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9724,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016078",
          "MEDGEN:907372",
          "OMIM:616298",
          "UMLS:C4225380"
        ],
        "synonyms": [
          "DDX58 singleton-Merten dysplasia",
          "singleton-Merten dysplasia caused by mutation in DDX58",
          "singleton-Merten syndrome 2",
          "singleton-Merten syndrome type 2",
          "SGMRT2"
        ],
        "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 DDX58 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014575"
    },
    {
      "id": 21481,
      "label": "Singleton-Merten syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9724,
        24657,
        24803
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024535"
    }
  ],
  "roots": [
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}