{
  "id": 25974,
  "label": "saccular spinal dysraphism with a stalk to the dome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0968988",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17449,
      "label": "spina bifida cystica",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19188
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017069"
    },
    {
      "id": 25942,
      "label": "limited dorsal myeloschisis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25900
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027019",
          "MEDGEN:1853137",
          "Orphanet:645196",
          "UMLS:C5781237"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present."
      },
      "child_count": 2,
      "reference_id": "MONDO:0958345"
    }
  ],
  "children": [
    {
      "id": 25989,
      "label": "terminal myelocystocele",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17457,
        25974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027094",
          "MEDGEN:1853147",
          "Orphanet:645337",
          "UMLS:C5816718"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0970962"
    },
    {
      "id": 25990,
      "label": "saccular limited dorsal myeloschisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027095",
          "MEDGEN:1853145",
          "Orphanet:645354",
          "UMLS:C5816715"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present."
      },
      "child_count": 0,
      "reference_id": "MONDO:0970963"
    },
    {
      "id": 25991,
      "label": "myelic limited dorsal malformation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027096",
          "MEDGEN:1853142",
          "Orphanet:645378",
          "UMLS:C5816714"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized."
      },
      "child_count": 0,
      "reference_id": "MONDO:0970964"
    }
  ],
  "roots": [
    {
      "id": 17449,
      "label": "spina bifida cystica"
    },
    {
      "id": 25942,
      "label": "limited dorsal myeloschisis"
    }
  ]
}