{
  "id": 11816,
  "label": "microphthalmia, syndromic 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010671",
  "properties": {
    "xrefs": [
      "DOID:0111799",
      "GARD:0015304",
      "ICD9:759.89",
      "MEDGEN:162898",
      "MESH:C537464",
      "MESH:C564457",
      "OMIM:309800",
      "Orphanet:85275",
      "SCTID:438504004",
      "SCTID:717222003",
      "UMLS:C0796016"
    ],
    "synonyms": [
      "ANOP1, formerly",
      "Lenz dysplasia",
      "Lenz microphthalmia syndrome",
      "MAA, formerly",
      "MCOPS1",
      "MCOPS4",
      "MCOPS4, formerly",
      "microphthalmia syndromic 4",
      "microphthalmia with ankyloblepharon and intellectual disability",
      "microphthalmia with ankyloblepharon and mental retardation",
      "microphthalmia, syndromic 1",
      "microphthalmia, syndromic 4, formerly",
      "microphthalmia, syndromic type 1",
      "syndromic microphthalmia type 4"
    ],
    "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20367
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080636",
          "GARD:0020342",
          "MEDGEN:1826052",
          "OMIMPS:309800",
          "Orphanet:202948",
          "UMLS:C5679782"
        ],
        "synonyms": [
          "microphthalmia, syndromic",
          "syndrome associated with microphthalmia",
          "syndromic microphthalmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A microphthalmia that is part of a larger syndrome."
      },
      "child_count": 57,
      "reference_id": "MONDO:0016073"
    },
    {
      "id": 23873,
      "label": "NAA10-related syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026055"
        ],
        "synonyms": [
          "NAA10 X-linked syndromic intellectual disability",
          "NAA10-related syndrome",
          "X-linked syndromic intellectual disability caused by mutation in NAA10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100124"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    },
    {
      "id": 23873,
      "label": "NAA10-related syndrome"
    }
  ]
}