{
  "id": 17129,
  "label": "autosomal recessive primary microcephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016660",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 29,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 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": 10837,
      "label": "microcephaly 1, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129,
        23941
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070285",
          "GARD:0015198",
          "MEDGEN:344415",
          "MESH:C565384",
          "OMIM:251200",
          "Orphanet:52183",
          "UMLS:C1855081"
        ],
        "synonyms": [
          "MCPH1 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in MCPH1",
          "microcephaly 1, primary, autosomal recessive",
          "MCPH1",
          "PCC syndrome",
          "premature chromosome condensation syndrome",
          "premature chromosome condensation with microcephaly and intellectual disability",
          "premature chromosome condensation with microcephaly and mental retardation"
        ],
        "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 MCPH1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009617"
    },
    {
      "id": 12482,
      "label": "microcephaly with simplified gyral pattern",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015360",
          "MEDGEN:350198",
          "MESH:C566332",
          "OMIM:603802",
          "UMLS:C1863516"
        ],
        "synonyms": [
          "microcephaly with simplified gyral pattern"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011372"
    },
    {
      "id": 12540,
      "label": "microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070293",
          "GARD:0015366",
          "MEDGEN:346929",
          "MESH:C565794",
          "OMIM:604317",
          "UMLS:C1858535"
        ],
        "synonyms": [
          "microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
          "MCPH2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011435"
    },
    {
      "id": 12542,
      "label": "microcephaly 4, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070291",
          "GARD:0015367",
          "MEDGEN:347655",
          "MESH:C565792",
          "OMIM:604321",
          "UMLS:C1858516"
        ],
        "synonyms": [
          "microcephaly 4, primary, autosomal recessive",
          "MCPH4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011437"
    },
    {
      "id": 12590,
      "label": "microcephaly 3, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070286",
          "GARD:0015373",
          "MEDGEN:347619",
          "MESH:C565746",
          "OMIM:604804",
          "UMLS:C1858108"
        ],
        "synonyms": [
          "CDK5RAP2 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2",
          "microcephaly 3, primary, autosomal recessive",
          "MCPH3"
        ],
        "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 CDK5RAP2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011488"
    },
    {
      "id": 13172,
      "label": "microcephaly 5, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070280",
          "GARD:0015441",
          "MEDGEN:373344",
          "MESH:C563871",
          "OMIM:608716",
          "UMLS:C1837501"
        ],
        "synonyms": [
          "ASPM autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in ASPM",
          "microcephaly 5, primary, autosomal recessive",
          "MCPH5"
        ],
        "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 ASPM gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012106"
    },
    {
      "id": 14029,
      "label": "microcephaly 7, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070278",
          "GARD:0015580",
          "MEDGEN:436370",
          "MESH:C567198",
          "OMIM:612703",
          "UMLS:C2675187"
        ],
        "synonyms": [
          "STIL autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in STIL",
          "microcephaly 7, primary, autosomal recessive",
          "MCPH7"
        ],
        "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 STIL gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012989"
    },
    {
      "id": 14863,
      "label": "microcephaly 8, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070282",
          "GARD:0015833",
          "MEDGEN:766328",
          "OMIM:614673",
          "UMLS:C3553414"
        ],
        "synonyms": [
          "CEP135 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CEP135",
          "microcephaly 8, primary, autosomal recessive",
          "MCPH8"
        ],
        "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 CEP135 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013849"
    },
    {
      "id": 14935,
      "label": "microcephaly 9, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070292",
          "GARD:0015855",
          "MEDGEN:766800",
          "OMIM:614852",
          "UMLS:C3553886"
        ],
        "synonyms": [
          "CEP152 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CEP152",
          "microcephaly 9, primary, autosomal recessive",
          "MCPH9"
        ],
        "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 CEP152 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013923"
    },
    {
      "id": 15053,
      "label": "microcephalic primordial dwarfism due to ZNF335 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070294",
          "GARD:0017498",
          "MEDGEN:767413",
          "OMIM:615095",
          "Orphanet:329228",
          "SCTID:724141003",
          "UMLS:C3554499"
        ],
        "synonyms": [
          "microcephalic primordial dwarfism, Walsh type",
          "MCPH10",
          "microcephaly 10, primary, autosomal recessive",
          "primary autosomal recessive microcephaly 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014043"
    },
    {
      "id": 15180,
      "label": "microcephaly 11, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070287",
          "GARD:0024977",
          "MEDGEN:815761",
          "OMIM:615414",
          "UMLS:C3809431"
        ],
        "synonyms": [
          "PHC1 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in PHC1",
          "microcephaly 11, primary, autosomal recessive",
          "MCPH11"
        ],
        "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 PHC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014173"
    },
    {
      "id": 15472,
      "label": "microcephaly 13, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129,
        19181,
        24802
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014473"
    },
    {
      "id": 15483,
      "label": "microcephaly 12, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070284",
          "GARD:0016057",
          "MEDGEN:863593",
          "OMIM:616080",
          "UMLS:C4015156"
        ],
        "synonyms": [
          "CDK6 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CDK6",
          "microcephaly 12, primary, autosomal recessive",
          "MCPH12"
        ],
        "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 CDK6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014484"
    },
    {
      "id": 15619,
      "label": "microcephaly 14, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070279",
          "GARD:0016105",
          "MEDGEN:906798",
          "OMIM:616402",
          "UMLS:C4225338"
        ],
        "synonyms": [
          "SASS6 autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in SASS6",
          "microcephaly 14, primary, autosomal recessive",
          "MCPH14"
        ],
        "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 SASS6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014623"
    },
    {
      "id": 15655,
      "label": "microcephaly 15, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070277",
          "GARD:0016123",
          "MEDGEN:895496",
          "OMIM:616486",
          "UMLS:C4225310"
        ],
        "synonyms": [
          "microcephaly 15, primary, autosomal recessive",
          "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities",
          "MCPH15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014660"
    },
    {
      "id": 15722,
      "label": "microcephaly 16, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070289",
          "GARD:0016151",
          "MEDGEN:898705",
          "OMIM:616681",
          "UMLS:C4225249"
        ],
        "synonyms": [
          "MCPH16",
          "microcephaly 16, primary, autosomal recessive",
          "microcephaly 16, primary, autosomal recessive; MCPH16"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014730"
    },
    {
      "id": 15888,
      "label": "microcephaly 17, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070288",
          "GARD:0016186",
          "MEDGEN:934690",
          "OMIM:617090",
          "UMLS:C4310723"
        ],
        "synonyms": [
          "CIT autosomal recessive primary microcephaly",
          "MCPH17",
          "autosomal recessive primary microcephaly caused by mutation in CIT",
          "autosomal recessive primary microcephaly caused by mutation in cit",
          "cit autosomal recessive primary microcephaly",
          "microcephaly 17, primary, autosomal recessive",
          "microcephaly 17, primary, autosomal recessive; MCPH17"
        ],
        "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 CIT gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014908"
    },
    {
      "id": 21894,
      "label": "microcephaly 28, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051039",
          "GARD:0025544",
          "MEDGEN:1794279",
          "OMIM:619453",
          "UMLS:C5562069"
        ],
        "synonyms": [
          "MCPH28",
          "microcephaly 28, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030339"
    },
    {
      "id": 22214,
      "label": "microcephaly 29, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051040",
          "GARD:0025689",
          "MEDGEN:1823993",
          "OMIM:620047",
          "UMLS:C5774220"
        ],
        "synonyms": [
          "MCPH29",
          "microcephaly 29, primary, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031060"
    },
    {
      "id": 22273,
      "label": "microcephaly 24, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051035",
          "GARD:0016302",
          "MEDGEN:1648413",
          "OMIM:618179",
          "UMLS:C4748555"
        ],
        "synonyms": [
          "MCPH24",
          "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032583"
    },
    {
      "id": 22369,
      "label": "microcephaly 25, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051036",
          "GARD:0016346",
          "MEDGEN:1674123",
          "OMIM:618351",
          "UMLS:C5193046"
        ],
        "synonyms": [
          "MCPH25",
          "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032694"
    },
    {
      "id": 23590,
      "label": "microcephaly 19, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070281",
          "GARD:0016253",
          "MEDGEN:1616860",
          "OMIM:617800",
          "UMLS:C4540488"
        ],
        "synonyms": [
          "MCPH19",
          "microcephaly 19, PRIMARY, autosomal recessive",
          "primary autosomal recessive microcephaly 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054716"
    },
    {
      "id": 23615,
      "label": "microcephaly 20, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051031",
          "GARD:0016268",
          "MEDGEN:1641618",
          "OMIM:617914",
          "UMLS:C4693572"
        ],
        "synonyms": [
          "MCPH20",
          "microcephaly 20, PRIMARY, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054761"
    },
    {
      "id": 23630,
      "label": "microcephaly 21, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051032",
          "GARD:0016278",
          "MEDGEN:1646916",
          "OMIM:617983",
          "UMLS:C4693831"
        ],
        "synonyms": [
          "MCPH21",
          "microcephaly 21, PRIMARY, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054804"
    },
    {
      "id": 23631,
      "label": "microcephaly 22, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051033",
          "GARD:0016279",
          "MEDGEN:1635688",
          "OMIM:617984",
          "UMLS:C4693834"
        ],
        "synonyms": [
          "MCPH22",
          "microcephaly 22, PRIMARY, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054805"
    },
    {
      "id": 23632,
      "label": "microcephaly 23, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051034",
          "GARD:0016280",
          "MEDGEN:1631589",
          "OMIM:617985",
          "UMLS:C4693843"
        ],
        "synonyms": [
          "MCPH23",
          "microcephaly 23, PRIMARY, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054806"
    },
    {
      "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"
    },
    {
      "id": 25474,
      "label": "microcephaly 30, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051041",
          "GARD:0026708",
          "MEDGEN:1824053",
          "OMIM:620183",
          "UMLS:C5774280"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859342"
    },
    {
      "id": 26408,
      "label": "microcephaly 31, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621507"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980991"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16689,
      "label": "isolated congenital microcephaly"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}