{
  "id": 14883,
  "label": "Seckel syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013871",
  "properties": {
    "xrefs": [
      "DOID:0070006",
      "GARD:0024958",
      "MEDGEN:766496",
      "OMIM:614728",
      "UMLS:C3553582"
    ],
    "synonyms": [
      "CEP63 Seckel syndrome",
      "SCKL6",
      "Seckel syndrome 6",
      "Seckel syndrome caused by mutation in CEP63",
      "Seckel syndrome type 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19181,
      "label": "Seckel syndrome"
    }
  ]
}