{
  "id": 24450,
  "label": "microcephaly 6 with or without short stature",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700054",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 24074,
      "label": "microcephaly with or without short stature",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026150"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have intellectual disability, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. These clinical features include Seckel syndrome, a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with intellectual disability."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100346"
    }
  ],
  "children": [
    {
      "id": 13097,
      "label": "microcephaly 6, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24450
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070290",
          "GARD:0015431",
          "MEDGEN:330770",
          "MESH:C564247",
          "OMIM:608393",
          "UMLS:C1842109"
        ],
        "synonyms": [
          "CENPJ autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CENPJ",
          "microcephaly 6, primary, autosomal recessive",
          "MCPH6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012029"
    },
    {
      "id": 14391,
      "label": "Seckel syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24450
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013358"
    }
  ],
  "roots": [
    {
      "id": 24074,
      "label": "microcephaly with or without short stature"
    }
  ]
}