{
  "id": 14391,
  "label": "Seckel syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013358",
  "properties": {
    "xrefs": [
      "DOID:0070010",
      "GARD:0015687",
      "MEDGEN:854819",
      "OMIM:613676",
      "UMLS:C3888212"
    ],
    "synonyms": [
      "CENPJ Seckel syndrome",
      "SCKL4",
      "Seckel syndrome 4",
      "Seckel syndrome caused by mutation in CENPJ",
      "Seckel syndrome type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ 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": 24450,
      "label": "microcephaly 6 with or without short stature",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026336"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Disorder of fetal brain growth; individuals have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Clinical features include the features of ‘microcephaly 6, primary, autosomal recessive’ and 'Seckel syndrome', and may include short stature or mild seizures."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700054"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19181,
      "label": "Seckel syndrome"
    },
    {
      "id": 24450,
      "label": "microcephaly 6 with or without short stature"
    }
  ]
}