{
  "id": 10384,
  "label": "Silverman-Handmaker type dyssegmental dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009140",
  "properties": {
    "xrefs": [
      "DOID:0090032",
      "GARD:0002026",
      "ICD9:759.89",
      "MEDGEN:347372",
      "MESH:C537998",
      "OMIM:224410",
      "Orphanet:1865",
      "SCTID:93132001",
      "UMLS:C1857100"
    ],
    "synonyms": [
      "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type",
      "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type",
      "DDSH",
      "dyssegmental dwarfism Silverman-Handmaker type",
      "dyssegmental dwarfism, Silverman-Handmaker type",
      "dyssegmental dysplasia Silverman-Handmaker type",
      "dyssegmental dysplasia, Silverman-Handmaker type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16753,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020398",
          "MEDGEN:1842752",
          "Orphanet:207101",
          "UMLS:C5680831"
        ],
        "synonyms": [
          "qualitative or quantitative defects of perlecan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016151"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16753,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}