{
  "id": 15472,
  "label": "microcephaly 13, primary, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014473",
  "properties": {
    "xrefs": [
      "DOID:0070283",
      "GARD:0016054",
      "MEDGEN:863517",
      "OMIM:616051",
      "UMLS:C4015080"
    ],
    "synonyms": [
      "CENPE autosomal recessive primary microcephaly",
      "autosomal recessive primary microcephaly caused by mutation in CENPE",
      "microcephaly 13, primary, autosomal recessive",
      "MCPH13"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "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 CENPE gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "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": 17129,
      "label": "autosomal recessive primary microcephaly"
    },
    {
      "id": 19181,
      "label": "Seckel syndrome"
    },
    {
      "id": 24802,
      "label": "primordial dwarfism and slender bone disorder"
    }
  ]
}