{
  "id": 11302,
  "label": "3M syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010117",
  "properties": {
    "xrefs": [
      "GARD:0015239",
      "MEDGEN:395592",
      "OMIM:273750",
      "UMLS:C2678312"
    ],
    "synonyms": [
      "3-M syndrome 1",
      "3-M syndrome caused by mutation in CUL7",
      "3-M syndrome caused by mutation in Cul7",
      "CUL7 3-M syndrome",
      "Cul7 3-M syndrome",
      "three M syndrome 1",
      "three M syndrome type 1",
      "3M syndrome",
      "3M1",
      "Dolichospondylic dysplasia",
      "Le Merrer syndrome",
      "Yakut short stature syndrome",
      "gloomy face syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8864,
      "label": "3-M syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16089
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060241",
          "GARD:0005667",
          "ICD9:756.59",
          "MEDGEN:336440",
          "MESH:C535314",
          "NORD:1767",
          "OMIMPS:273750",
          "Orphanet:2616",
          "SCTID:702342007",
          "UMLS:C1848862"
        ],
        "synonyms": [
          "3-M syndrome",
          "Three M Syndrome",
          "Yakut short stature syndrome",
          "three M syndrome",
          "3M1",
          "three M syndrome 1",
          "3-MSBN",
          "3M syndrome",
          "dwarfism with tall vertebrae",
          "gloomy face syndrome Yakut short stature syndrome, included",
          "three-M slender-boned nanism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence."
      },
      "child_count": 9,
      "reference_id": "MONDO:0007477"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026426"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death."
      },
      "child_count": 26,
      "reference_id": "MONDO:0800063"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8864,
      "label": "3-M syndrome"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}