{
  "id": 10284,
  "label": "temtamy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009033",
  "properties": {
    "xrefs": [
      "DOID:0111621",
      "GARD:0005688",
      "MEDGEN:347474",
      "MESH:C536959",
      "NCIT:C148371",
      "OMIM:218340",
      "Orphanet:1777",
      "SCTID:719947004",
      "UMLS:C1857512"
    ],
    "synonyms": [
      "Temtamy-Shalash syndrome",
      "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome",
      "temtamy syndrome",
      "Dysmorphism, corpus callosum agenesis and colobomas",
      "TEMTAMY syndrome",
      "TEMTYS",
      "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation",
      "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum",
      "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum"
    ],
    "definition": "Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}