{
  "id": 3394,
  "label": "microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001149",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0010642",
          "MEDGEN:453059",
          "MESH:D065886",
          "MedDRA:10064062",
          "NCIT:C89338",
          "SCTID:700364009",
          "UMLS:C1535926"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [
    {
      "id": 2712,
      "label": "microcephalic osteodysplastic primordial dwarfism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022705"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000060"
    },
    {
      "id": 2760,
      "label": "microcephaly and chorioretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394,
        6458,
        24226
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0000181"
    },
    {
      "id": 9251,
      "label": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        3394,
        4370,
        19000,
        19154,
        23165,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060349",
          "GARD:0003622",
          "MEDGEN:320559",
          "MESH:C537711",
          "OMIM:152950",
          "Orphanet:2526",
          "UMLS:C1835265"
        ],
        "synonyms": [
          "KIF11-associated disorder",
          "MCLMR",
          "MLCRD",
          "MLCRD syndrome",
          "lymphedema, microcephaly and chorioretinopathy syndrome",
          "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",
          "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
          "microcephaly, lymphedema, chorioretinal dysplasia syndrome",
          "KIF11 disease",
          "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007918"
    },
    {
      "id": 12874,
      "label": "Amish lethal microcephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2745,
        3394,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008606",
          "MEDGEN:375938",
          "MESH:C538247",
          "OMIM:607196",
          "Orphanet:99742",
          "SCTID:702437000",
          "UMLS:C1846648"
        ],
        "synonyms": [
          "Amish lethal microcephaly",
          "MCPHA",
          "microcephaly, Amish type",
          "thiamine metabolism dysfunction syndrome 3 (microcephaly type)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011790"
    },
    {
      "id": 14290,
      "label": "microcephaly, seizures, and developmental delay",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3394,
        23814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080457",
          "GARD:0010933",
          "MEDGEN:462017",
          "OMIM:613402",
          "Orphanet:228418",
          "UMLS:C3150667"
        ],
        "synonyms": [
          "microcephaly, seizures, and developmental delay",
          "EIEE10",
          "MCSZ",
          "early infantile epileptic encephalopathy-10",
          "epileptic encephalopathy, early infantile, 10",
          "microcephaly - seizures - developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013254"
    },
    {
      "id": 16689,
      "label": "isolated congenital microcephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070297",
          "GARD:0003603",
          "MEDGEN:44422",
          "MedDRA:10027534",
          "Orphanet:199642",
          "UMLS:C0025958"
        ],
        "synonyms": [
          "microcephaly, primary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016056"
    },
    {
      "id": 23139,
      "label": "isolated microcephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003630",
          "MEDGEN:419828",
          "MESH:C537542",
          "UMLS:C2931527"
        ],
        "synonyms": [
          "Nonsyndromal microcephaly",
          "microcephaly, non-syndromic",
          "nonsyndromic microcephaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043137"
    },
    {
      "id": 23941,
      "label": "microcephaly with intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026081"
        ],
        "synonyms": [
          "microcephaly with neurodevelopmental phenotypes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Microcephaly characterized by both microcephaly and atypical neurodevelopment, without other commonly reported non-brain related phenotypes."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100200"
    },
    {
      "id": 24511,
      "label": "microcephaly with lissencephaly and/or hydranencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3394,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026362"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700116"
    },
    {
      "id": 26380,
      "label": "microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3394,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621436"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980935"
    }
  ],
  "roots": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}