{
  "id": 10070,
  "label": "anophthalmia/microphthalmia-esophageal atresia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008799",
  "properties": {
    "xrefs": [
      "DOID:0111801",
      "GARD:0001443",
      "ICD9:758.5",
      "MEDGEN:347232",
      "OMIM:206900",
      "Orphanet:77298",
      "SCTID:698851003",
      "UMLS:C1859773"
    ],
    "synonyms": [
      "MCOPS3",
      "anophthalmia/microphthalmia-esophageal atresia syndrome",
      "microphthalmia, syndromic type 3",
      "syndromic microphthalmia type 3",
      "Aeg syndrome",
      "SOX2 anophthalmia syndrome",
      "SOX2-related eye disorders",
      "anophthalmia clinical with associated anomalies",
      "anophthalmia esophageal genital syndrome",
      "anophthalmia microphthalmia esophageal atresia",
      "anophthalmia, clinical, with associated anomalies",
      "anophthalmia-esophageal-genital syndrome",
      "microphthalmia and esophageal atresia syndrome",
      "microphthalmia, syndromic 3",
      "optic nerve hypoplasia and abnormalities of the central nervous system",
      "syndromic microphthalmia, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 16704,
      "label": "syndromic microphthalmia"
    }
  ]
}