{
  "id": 10596,
  "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009364",
  "properties": {
    "xrefs": [
      "DOID:0111237",
      "GARD:0024665",
      "MEDGEN:924974",
      "NCIT:C128118",
      "OMIM:236670",
      "UMLS:C4284790"
    ],
    "synonyms": [
      "muscle-eye-brain-POMT1 related",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1",
      "MDDGA1",
      "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related",
      "cerebroocular dysplasia-muscular dystrophy syndrome",
      "cod-MD syndrome",
      "hard syndrome",
      "hydrocephalus, agyria, and retinal dysplasia",
      "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."
  },
  "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": 18861,
      "label": "muscle-eye-brain disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000156",
          "ICD9:742.4",
          "MEDGEN:105341",
          "Orphanet:588",
          "SCTID:277950001",
          "UMLS:C0457133"
        ],
        "synonyms": [
          "MEB syndrome",
          "Santavuori congenital muscular dystrophy",
          "muscle-eye-brain syndrome",
          "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
          "MEB",
          "muscle eye brain disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018939"
    },
    {
      "id": 24466,
      "label": "myopathy caused by variation in POMT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026343"
        ],
        "synonyms": [
          "POMT1 myopathy",
          "POMT1-related myopathy",
          "myopathy caused by mutation in POMT1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the POMT1 gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700070"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2756,
      "label": "muscular dystrophy-dystroglycanopathy, type A"
    },
    {
      "id": 18861,
      "label": "muscle-eye-brain disease"
    },
    {
      "id": 24466,
      "label": "myopathy caused by variation in POMT1"
    }
  ]
}