{
  "id": 24074,
  "label": "microcephaly with or without short stature",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100346",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16689,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070296",
          "GARD:0012117",
          "MEDGEN:777995",
          "MESH:C579935",
          "OMIMPS:251200",
          "Orphanet:2512",
          "SCTID:715981004",
          "UMLS:C3711387"
        ],
        "synonyms": [
          "true microcephaly",
          "MCPH",
          "microcephalia vera",
          "microcephaly vera",
          "microcephaly, primary autosomal recessive",
          "microcephaly, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."
      },
      "child_count": 87,
      "reference_id": "MONDO:0016660"
    }
  ],
  "children": [
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 17129,
      "label": "autosomal recessive primary microcephaly"
    }
  ]
}