{
  "id": 9332,
  "label": "Mobius syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008006",
  "properties": {
    "xrefs": [
      "DOID:13501",
      "GARD:0008549",
      "ICD9:759.89",
      "MEDGEN:66357",
      "MESH:D020331",
      "MedDRA:10027789",
      "MedDRA:10030069",
      "NANDO:1200559",
      "NANDO:2200980",
      "NCIT:C84893",
      "NORD:1453",
      "OMIM:157900",
      "Orphanet:570",
      "SCTID:89444000",
      "UMLS:C0221060"
    ],
    "synonyms": [
      "MBS",
      "Mobius syndrome",
      "Moebius Syndrome",
      "Moebius sequence",
      "Moebius syndrome",
      "Moebius syndrome, Isolated cases",
      "Möbius syndrome",
      "congenital facial diplegia",
      "oromandibular-limb hypogenesis spectrum",
      "absence or underdevelopment of the 6th and 7th cranial nerves",
      "congenital facial diplegia syndrome",
      "congenital oculofacial paralysis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4235,
      "label": "facial nerve disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5469,
        5512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1756",
          "EFO:1002051",
          "ICD10CM:G51",
          "ICD9:351",
          "ICD9:351.9",
          "MEDGEN:41946",
          "MESH:D005155",
          "NCIT:C27594",
          "SCTID:422426003",
          "UMLS:C0015464"
        ],
        "synonyms": [
          "disease of facial nerve",
          "disease or disorder of facial nerve",
          "disorder of facial nerve",
          "facial nerve disease",
          "facial nerve disease or disorder",
          "facial nerve disorder",
          "disorder of seventh cranial nerve",
          "disorders of the VIIth cranial nerve",
          "disorders of the seventh nerve",
          "facial neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease involving the facial nerve."
      },
      "child_count": 18,
      "reference_id": "MONDO:0002098"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:100932"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015083"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 17245,
      "label": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9332,
        16526,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003698",
          "MEDGEN:419697",
          "MESH:C535806",
          "Orphanet:2560",
          "UMLS:C2931024"
        ],
        "synonyms": [
          "Moebius axonal neuropathy hypogonadism",
          "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016819"
    }
  ],
  "roots": [
    {
      "id": 4235,
      "label": "facial nerve disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    }
  ]
}