{
  "id": 17245,
  "label": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016819",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9332,
      "label": "Mobius syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4235,
        4370,
        4427,
        16052,
        16088
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0008006"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9332,
      "label": "Mobius syndrome"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}