{
  "id": 2760,
  "label": "microcephaly and chorioretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000181",
  "properties": {
    "xrefs": [
      "GARD:0003611",
      "OMIMPS:251270"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3394,
      "label": "microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10907",
          "HP:0000252",
          "ICD10CM:Q02",
          "ICD10WHO:Q02",
          "ICD9:742.1",
          "MEDGEN:1644158",
          "MESH:D008831",
          "NCIT:C85874",
          "SCTID:1829003",
          "UMLS:C4551563",
          "icd11.foundation:179350437"
        ],
        "synonyms": [
          "microcephalus",
          "microcephaly",
          "microcephaly (disease)",
          "microencephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001149"
    },
    {
      "id": 6458,
      "label": "chorioretinitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19773
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8886",
          "GARD:0006060",
          "HP:0012424",
          "ICD9:363.20",
          "MEDGEN:942",
          "MESH:D002825",
          "NCIT:C110923",
          "SCTID:46627006",
          "UMLS:C0008513"
        ],
        "synonyms": [
          "chorioretinitis",
          "chorioretinitis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision."
      },
      "child_count": 4,
      "reference_id": "MONDO:0004674"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 10844,
      "label": "microcephaly and chorioretinopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2760,
        4370,
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080105",
          "GARD:0016603",
          "MEDGEN:480111",
          "NCIT:C129306",
          "OMIM:251270",
          "Orphanet:2518",
          "UMLS:C3278481"
        ],
        "synonyms": [
          "Pseudotoxoplasmosis syndrome",
          "TUBGCP6 microcephaly and chorioretinopathy",
          "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome",
          "microcephaly and chorioretinopathy 1",
          "microcephaly and chorioretinopathy caused by mutation in TUBGCP6",
          "microcephaly and chorioretinopathy type 1",
          "microcephaly and chorioretinopathy, autosomal recessive, type 1",
          "MCCRP1",
          "autosomal recessive chorioretinopathy-microcephaly syndrome",
          "microcephaly and chorioretinopathy, autosomal recessive, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009624"
    },
    {
      "id": 15515,
      "label": "microcephaly and chorioretinopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2760,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080106",
          "GARD:0024997",
          "MEDGEN:863825",
          "OMIM:616171",
          "UMLS:C4015388"
        ],
        "synonyms": [
          "PLK4 microcephaly and chorioretinopathy",
          "microcephaly and chorioretinopathy caused by mutation in PLK4",
          "microcephaly and chorioretinopathy type 2",
          "microcephaly and chorioretinopathy, autosomal recessive, type 2",
          "MCCRP2",
          "microcephaly and chorioretinopathy, autosomal recessive, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014516"
    },
    {
      "id": 15590,
      "label": "microcephaly and chorioretinopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2760
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080107",
          "GARD:0018482",
          "MEDGEN:902924",
          "OMIM:616335",
          "UMLS:C4225362"
        ],
        "synonyms": [
          "TUBGCP4 microcephaly and chorioretinopathy",
          "microcephaly and chorioretinopathy caused by mutation in TUBGCP4",
          "microcephaly and chorioretinopathy type 3",
          "microcephaly and chorioretinopathy, autosomal recessive, type 3",
          "MCCRP3",
          "microcephaly and chorioretinopathy, autosomal recessive, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014592"
    }
  ],
  "roots": [
    {
      "id": 3394,
      "label": "microcephaly"
    },
    {
      "id": 6458,
      "label": "chorioretinitis"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}