{
  "id": 14916,
  "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013904",
  "properties": {
    "xrefs": [
      "DOID:0111231",
      "GARD:0015846",
      "MEDGEN:766727",
      "OMIM:614830",
      "UMLS:C3553813"
    ],
    "synonyms": [
      "POMGNT2 muscular dystrophy-dystroglycanopathy, type A",
      "muscle-eye-brain-POMGNT2 related",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8",
      "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2",
      "MDDGA8",
      "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2756,
      "label": "muscular dystrophy-dystroglycanopathy, type A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050560",
          "GARD:0002599",
          "MEDGEN:75553",
          "MESH:D058494",
          "NCIT:C99109",
          "OMIMPS:236670",
          "Orphanet:899",
          "SCTID:111504002",
          "UMLS:C0265221"
        ],
        "synonyms": [
          "WWS",
          "Walker-Warburg muscular dystrophy",
          "Walker-Warburg syndrome",
          "hard syndrome",
          "hydrocephalus-agyria-retinal dysplasia syndrome",
          "Chemke syndrome",
          "Pagon syndrome",
          "Warburg syndrome",
          "cerebroocular dysgenesis",
          "cerebroocular dysplasia muscular dystrophy syndrome",
          "hard +/- E syndrome",
          "hydrocephalus, agyria and retinal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0000171"
    },
    {
      "id": 24471,
      "label": "congenital muscular dystrophy caused by variation in POMGNT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667,
        24465
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026347"
        ],
        "synonyms": [
          "congenital muscular dystrophy caused by mutation in POMGNT2",
          "congenital muscular dystrophy-POMGNT2 related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0700075"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2756,
      "label": "muscular dystrophy-dystroglycanopathy, type A"
    },
    {
      "id": 24471,
      "label": "congenital muscular dystrophy caused by variation in POMGNT2"
    }
  ]
}