{
  "id": 15110,
  "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014101",
  "properties": {
    "xrefs": [
      "DOID:0111235",
      "GARD:0015927",
      "MEDGEN:815294",
      "OMIM:615249",
      "UMLS:C3808964"
    ],
    "synonyms": [
      "POMK muscular dystrophy-dystroglycanopathy, type A",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
      "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK",
      "MDDGA12",
      "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"
    ],
    "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 POMK 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2756,
      "label": "muscular dystrophy-dystroglycanopathy, type A"
    }
  ]
}