{
  "id": 15967,
  "label": "Seckel syndrome 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014991",
  "properties": {
    "xrefs": [
      "DOID:0070008",
      "GARD:0018484",
      "MEDGEN:934614",
      "OMIM:617253",
      "UMLS:C4310647"
    ],
    "synonyms": [
      "NSMCE2 Seckel syndrome",
      "SCKL10",
      "Seckel syndrome 10",
      "Seckel syndrome caused by mutation in NSMCE2",
      "Seckel syndrome type 10"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19181,
      "label": "Seckel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050569",
          "GARD:0008562",
          "ICD9:759.89",
          "MEDGEN:78534",
          "NCIT:C125488",
          "NORD:1701",
          "OMIMPS:210600",
          "Orphanet:808",
          "SCTID:57917004",
          "UMLS:C0265202",
          "icd11.foundation:952199295"
        ],
        "synonyms": [
          "SCKL",
          "Seckel-type Dwarfism",
          "bird-headed dwarfism",
          "nanocephalic Dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance."
      },
      "child_count": 24,
      "reference_id": "MONDO:0019342"
    },
    {
      "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": 19181,
      "label": "Seckel syndrome"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}