{
  "id": 18236,
  "label": "neural tube defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018075",
  "properties": {
    "xrefs": [
      "DOID:0080074",
      "GARD:0018796",
      "ICD9:742.8",
      "MEDGEN:18009",
      "MESH:D009436",
      "NCIT:C84923",
      "Orphanet:3388",
      "SCTID:253098009",
      "UMLS:C0027794"
    ],
    "synonyms": [
      "NTD",
      "spinal dysraphism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    }
  ],
  "children": [
    {
      "id": 8715,
      "label": "Chiari malformation type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2730,
        18236,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009233",
          "MEDGEN:196689",
          "MedDRA:10056944",
          "OMIM:118420",
          "Orphanet:268882",
          "SCTID:253185002",
          "UMLS:C0750929",
          "icd11.foundation:1383121646"
        ],
        "synonyms": [
          "Arnold-Chiari malformation type 1",
          "Arnold-Chiari malformation type I",
          "Chiari malformation type 1",
          "Chiari malformation type I",
          "Chiari malformation type 1 with syringomyelia",
          "Cm1",
          "Cm1 with syringomyelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007316"
    },
    {
      "id": 8918,
      "label": "lateral meningocele syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111343",
          "GARD:0009873",
          "MEDGEN:342070",
          "MESH:C537878",
          "OMIM:130720",
          "Orphanet:2789",
          "UMLS:C1851710"
        ],
        "synonyms": [
          "Lehman syndrome",
          "lateral meningocele syndrome",
          "LMNS",
          "Lms"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007537"
    },
    {
      "id": 10353,
      "label": "diastematomyelia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001851",
          "ICD10CM:Q06.2",
          "ICD9:742.51",
          "MEDGEN:3801",
          "MedDRA:10012750",
          "NCIT:C98913",
          "OMIM:222500",
          "Orphanet:1671",
          "SCTID:49351009",
          "UMLS:C0011999",
          "icd11.foundation:2070601288"
        ],
        "synonyms": [
          "SCM type 1",
          "diastematomyelia",
          "split cord malformation type 1",
          "Dimyelia",
          "Pseudodiplomyelia",
          "SSCM",
          "diplomyelia",
          "split cord malformation",
          "split spinal cord malformation"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009106"
    },
    {
      "id": 13352,
      "label": "lipomyelomeningocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010053",
          "ICD9:214.8",
          "MEDGEN:332109",
          "MESH:C537030",
          "OMIM:609537",
          "Orphanet:268835",
          "SCTID:104431000119107",
          "UMLS:C1836022",
          "icd11.foundation:1919145296"
        ],
        "synonyms": [
          "lipomyelomeningocele",
          "familial lipomyelomeningocele"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012296"
    },
    {
      "id": 15318,
      "label": "sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017642",
          "MEDGEN:816673",
          "OMIM:615709",
          "Orphanet:397927",
          "UMLS:C3810343"
        ],
        "synonyms": [
          "SAVA",
          "sacral agenesis with vertebral anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014314"
    },
    {
      "id": 17463,
      "label": "leptomyelolipoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020973",
          "MEDGEN:1657711",
          "Orphanet:268838",
          "UMLS:C4749649",
          "icd11.foundation:1479116207"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017084"
    },
    {
      "id": 17464,
      "label": "primary tethered cord syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004018",
          "MEDGEN:1636724",
          "NORD:1762",
          "Orphanet:268861",
          "SCTID:70534000",
          "UMLS:C4708602",
          "icd11.foundation:66705662"
        ],
        "synonyms": [
          "Tethered Cord Syndrome",
          "primary tethered spinal cord syndrome",
          "occult spinal dysraphism",
          "occult spinal dysraphism sequence",
          "segmental vertebral anomalies",
          "tethered cord syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017086"
    },
    {
      "id": 17465,
      "label": "neurenteric cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020975",
          "MEDGEN:14343",
          "Orphanet:268865",
          "UMLS:C0027806",
          "icd11.foundation:172158971"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017087"
    },
    {
      "id": 17466,
      "label": "isolated amyelia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020976",
          "MEDGEN:451024",
          "Orphanet:268868",
          "UMLS:C0266510",
          "icd11.foundation:1787577133"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017088"
    },
    {
      "id": 17885,
      "label": "caudal regression sequence",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080700",
          "GARD:0006007",
          "MEDGEN:81254",
          "MedDRA:10054842",
          "MedDRA:10059387",
          "MedDRA:10068896",
          "NCIT:C124505",
          "NORD:902",
          "Orphanet:3027",
          "UMLS:C0300948",
          "icd11.foundation:269997265"
        ],
        "synonyms": [
          "Caudal Regression Syndrome",
          "caudal dysplasia",
          "sacral agenesis syndrome",
          "sacral regression syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017607"
    },
    {
      "id": 18875,
      "label": "parietal foramina",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18236,
        18360,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060285",
          "GARD:0016662",
          "HP:0002697",
          "MESH:C566826",
          "OMIMPS:168500",
          "Orphanet:60015",
          "SCTID:718099006",
          "icd11.foundation:905361904"
        ],
        "synonyms": [
          "catlin marks",
          "enlarged parietal foramina",
          "fenestrae parietales symmetricae",
          "foramina parietalia permagna",
          "hereditary cranium bifidum",
          "parietal foramina",
          "symmetric parietal foramina"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018953"
    },
    {
      "id": 18889,
      "label": "iniencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18236
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010506",
          "ICD10CM:Q00.2",
          "ICD9:740.2",
          "MEDGEN:57756",
          "MedDRA:10022034",
          "NCIT:C124549",
          "Orphanet:63259",
          "SCTID:2438005",
          "UMLS:C0152234",
          "icd11.foundation:1558931335"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system."
      },
      "child_count": 2,
      "reference_id": "MONDO:0018968"
    }
  ],
  "roots": [
    {
      "id": 19709,
      "label": "central nervous system malformation"
    }
  ]
}