{
  "id": 17449,
  "label": "spina bifida cystica",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017069",
  "properties": {
    "xrefs": [
      "GARD:0020958",
      "MEDGEN:21277",
      "MESH:D016137",
      "MedDRA:10071011",
      "NANDO:1200509",
      "NANDO:2100215",
      "NANDO:2200814",
      "NCIT:C101201",
      "Orphanet:268744",
      "UMLS:C0037917",
      "icd11.foundation:979482551"
    ],
    "synonyms": [
      "meningomyelocele",
      "myelomeningocele",
      "open spina bifida",
      "spina bifida aperta",
      "spina bifida manifesta",
      "spina bifida, open"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 19188,
      "label": "isolated spina bifida",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007673",
          "MedDRA:10041524",
          "Orphanet:823"
        ],
        "synonyms": [
          "isolated spina bifida (disease)",
          "nonsyndromic spina bifida (disease)",
          "cleft spine",
          "open spine"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A spina bifida (disease) that is not part of a larger syndrome."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019351"
    }
  ],
  "children": [
    {
      "id": 10084,
      "label": "Chiari malformation type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2730,
        17449,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009232",
          "MEDGEN:108222",
          "MedDRA:10056945",
          "OMIM:207950",
          "Orphanet:1136",
          "SCTID:373587001",
          "UMLS:C0555206"
        ],
        "synonyms": [
          "Arnold-Chiari malformation type 2",
          "Arnold-Chiari malformation type II",
          "Chiari malformation type 2",
          "Chiari malformation type II",
          "Arnold Chiari malformation type II",
          "Arnold-Chiari malformation",
          "Chiari type II malformation",
          "Cm2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008816"
    },
    {
      "id": 17456,
      "label": "posterior meningocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020965",
          "MEDGEN:1806905",
          "Orphanet:268810",
          "UMLS:C5680741",
          "icd11.foundation:1464755755"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017076"
    },
    {
      "id": 17457,
      "label": "myelocystocele",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020966",
          "MEDGEN:1639659",
          "Orphanet:268813",
          "SCTID:203994003",
          "UMLS:C4551677",
          "icd11.foundation:863949070"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017077"
    },
    {
      "id": 19523,
      "label": "myelomeningocele",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17449
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060326",
          "GARD:0003475",
          "HP:0002475",
          "MEDGEN:7538",
          "MESH:D008591",
          "NANDO:1200509",
          "NANDO:2100215",
          "NANDO:2200814",
          "Orphanet:93969",
          "SCTID:414667000",
          "UMLS:C0025312",
          "icd11.foundation:1200528084"
        ],
        "synonyms": [
          "meningomyelocele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019773"
    },
    {
      "id": 25974,
      "label": "saccular spinal dysraphism with a stalk to the dome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17449,
        25942
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027084",
          "MEDGEN:1853133",
          "Orphanet:645319",
          "UMLS:C5816721"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0968988"
    }
  ],
  "roots": [
    {
      "id": 19188,
      "label": "isolated spina bifida"
    }
  ]
}