{
  "id": 3287,
  "label": "Klippel-Feil syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001029",
  "properties": {
    "xrefs": [
      "DOID:10426",
      "GARD:0010280",
      "ICD10CM:Q76.1",
      "ICD9:756.16",
      "MEDGEN:9645",
      "MESH:D007714",
      "NCIT:C98967",
      "OMIMPS:118100",
      "Orphanet:2345",
      "SCTID:5601008",
      "UMLS:C0022738",
      "icd11.foundation:2139186992"
    ],
    "synonyms": [
      "Klippel-Feil Sequence",
      "Klippel Feil syndrome",
      "Klippel-Feil and Turner syndrome",
      "Klippel-Feil deformity, deafness and facial asymmetry",
      "autosomal dominant Klippel-Feil syndrome",
      "cervical vertebral fusion",
      "congenital dystrophia brevicollis",
      "congenital synostosis of cervical vertebrae"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:17",
          "EFO:0009676",
          "ICD9:729.99",
          "MEDGEN:6471",
          "MESH:D009140",
          "NCIT:C107377",
          "SCTID:928000",
          "UMLS:C0026857"
        ],
        "synonyms": [
          "disease of musculoskeletal system",
          "disease or disorder of musculoskeletal system",
          "disorder of musculoskeletal system",
          "musculoskeletal disease",
          "musculoskeletal system disease",
          "musculoskeletal system disease or disorder",
          "musculoskeletal system disorder",
          "musculoskeletal disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the musculoskeletal system."
      },
      "child_count": 22,
      "reference_id": "MONDO:0002081"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8705,
      "label": "Klippel-Feil syndrome 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080589",
          "GARD:0015049",
          "MEDGEN:396196",
          "MESH:C536887",
          "NORD:1336",
          "OMIM:118100",
          "UMLS:C1861689"
        ],
        "synonyms": [
          "Klippel-Feil Syndrome",
          "GDF6 isolated Klippel-Feil syndrome",
          "Klippel-Feil syndrome 1, autosomal dominant",
          "isolated Klippel-Feil syndrome caused by mutation in GDF6",
          "KFS1",
          "Kfs",
          "Klippel-FEIL syndrome 1, autosomal dominant",
          "cervical vertebral fusion, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007306"
    },
    {
      "id": 10216,
      "label": "Klippel-Feil syndrome 2, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080590",
          "GARD:0015151",
          "MEDGEN:395201",
          "MESH:C536888",
          "OMIM:214300",
          "UMLS:C1859209"
        ],
        "synonyms": [
          "Klippel-Feil syndrome 2, autosomal recessive",
          "MEOX1 isolated Klippel-Feil syndrome",
          "isolated Klippel-Feil syndrome caused by mutation in MEOX1",
          "KFS2",
          "Kfs, autosomal recessive",
          "Klippel-FEIL syndrome 2, autosomal recessive",
          "cervical vertebral fusion, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008958"
    },
    {
      "id": 11899,
      "label": "Wildervanck syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005569",
          "ICD9:759.89",
          "MEDGEN:120518",
          "MedDRA:10069402",
          "NORD:1853",
          "OMIM:314600",
          "Orphanet:3456",
          "SCTID:79665007",
          "UMLS:C0265239"
        ],
        "synonyms": [
          "Cervicooculoacoustic syndrome",
          "Wildervanck syndrome",
          "COA syndrome",
          "cervico-oculo-acoustic dysplasia",
          "cervico-oculo-acoustic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010759"
    },
    {
      "id": 14408,
      "label": "Klippel-Feil syndrome 3, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080591",
          "GARD:0015691",
          "MEDGEN:462317",
          "OMIM:613702",
          "UMLS:C3150967"
        ],
        "synonyms": [
          "GDF3 isolated Klippel-Feil syndrome",
          "Klippel-Feil syndrome 3, autosomal dominant",
          "isolated Klippel-Feil syndrome caused by mutation in GDF3",
          "KFS3",
          "Klippel-FEIL syndrome 3, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013375"
    },
    {
      "id": 15684,
      "label": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080592",
          "GARD:0017778",
          "MEDGEN:894399",
          "OMIM:616549",
          "Orphanet:447974",
          "UMLS:C4225285"
        ],
        "synonyms": [
          "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
          "KFS4",
          "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism",
          "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014689"
    },
    {
      "id": 20809,
      "label": "Calabro syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008584",
          "MEDGEN:163240",
          "MESH:C537960",
          "UMLS:C0796276"
        ],
        "synonyms": [
          "craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022055"
    }
  ],
  "roots": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}