{
  "id": 2756,
  "label": "muscular dystrophy-dystroglycanopathy, type A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000171",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
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          "GARD:0012584",
          "MEDGEN:1842215",
          "Orphanet:370953",
          "UMLS:C5679911"
        ],
        "synonyms": [
          "CMD due to dystroglycanopathy",
          "muscular dystrophy-dystroglycanopathy",
          "congenital muscular dystrophy due to dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0018276"
    }
  ],
  "children": [
    {
      "id": 10596,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24466
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009364"
    },
    {
      "id": 10881,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24464
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111236",
          "GARD:0015204",
          "MEDGEN:462869",
          "NCIT:C126740",
          "OMIM:253280",
          "UMLS:C3151519"
        ],
        "synonyms": [
          "muscle-eye-brain-POMGNT1 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
          "MDDGA3",
          "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"
        ],
        "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 POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009667"
    },
    {
      "id": 10892,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050559",
          "GARD:0006475",
          "MEDGEN:140820",
          "NANDO:1200494",
          "NANDO:2200860",
          "NCIT:C126741",
          "NORD:1169",
          "OMIM:253800",
          "Orphanet:272",
          "SCTID:111502003",
          "UMLS:C0410174"
        ],
        "synonyms": [
          "FCMD",
          "Fukuyama Type Congenital Muscular Dystrophy",
          "Fukuyama congenital muscular dystrophy",
          "MDDGA4",
          "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related",
          "muscle-eye-brain-FKTN related",
          "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
          "congenital muscular dystrophy, Fukuyama type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009678"
    },
    {
      "id": 14190,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24467
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111240",
          "GARD:0015624",
          "MEDGEN:461761",
          "NCIT:C126742",
          "OMIM:613150",
          "UMLS:C3150411"
        ],
        "synonyms": [
          "MDDGA2",
          "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related",
          "muscle-eye-brain-POMT2 related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2"
        ],
        "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 POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013154"
    },
    {
      "id": 14193,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        16756,
        18861,
        24462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111241",
          "GARD:0015625",
          "MEDGEN:461763",
          "OMIM:613153",
          "UMLS:C3150413"
        ],
        "synonyms": [
          "muscle-eye-brain-FKRP related",
          "MDDGA5",
          "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013157"
    },
    {
      "id": 14194,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111242",
          "GARD:0015626",
          "MEDGEN:461764",
          "NCIT:C126743",
          "OMIM:613154",
          "UMLS:C3150414"
        ],
        "synonyms": [
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6",
          "MDDGA6",
          "Walker-Warburg syndrome or muscle-eye-brain disease, large-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6"
        ],
        "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 LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013158"
    },
    {
      "id": 14849,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        24255
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111234",
          "GARD:0015829",
          "MEDGEN:766244",
          "OMIM:614643",
          "UMLS:C3553330"
        ],
        "synonyms": [
          "ISPD muscular dystrophy-dystroglycanopathy, type A",
          "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
          "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD",
          "MDDGA7"
        ],
        "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 ISPD gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013835"
    },
    {
      "id": 14916,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        24471
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013904"
    },
    {
      "id": 15032,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111239",
          "GARD:0015898",
          "MEDGEN:767295",
          "OMIM:615041",
          "UMLS:C3554381"
        ],
        "synonyms": [
          "RXYLT1 muscular dystrophy-dystroglycanopathy, type A",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",
          "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1",
          "MDDGA10",
          "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10"
        ],
        "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 RXYLT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014022"
    },
    {
      "id": 15080,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111230",
          "GARD:0015915",
          "MEDGEN:767552",
          "OMIM:615181",
          "UMLS:C3554638"
        ],
        "synonyms": [
          "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11",
          "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2",
          "MDDGA11",
          "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"
        ],
        "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 B3GALNT2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014071"
    },
    {
      "id": 15110,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111235",
          "GARD:0015927",
          "MEDGEN:815294",
          "OMIM:615249",
          "UMLS:C3808964"
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        "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014101"
    },
    {
      "id": 15128,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111238",
          "GARD:0015938",
          "MEDGEN:815372",
          "OMIM:615287",
          "UMLS:C3809042"
        ],
        "synonyms": [
          "MDDGA13",
          "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014120"
    },
    {
      "id": 15147,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756,
        18861,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111233",
          "GARD:0015948",
          "MEDGEN:815546",
          "OMIM:615350",
          "UMLS:C3809216"
        ],
        "synonyms": [
          "muscle-eye-brain-GMPPB related",
          "MDDGA14",
          "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014140"
    },
    {
      "id": 15678,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111232",
          "GARD:0016134",
          "MEDGEN:902513",
          "OMIM:616538",
          "UMLS:C4225291"
        ],
        "synonyms": [
          "MDDGA9",
          "Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014683"
    }
  ],
  "roots": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy"
    }
  ]
}