{
  "id": 18861,
  "label": "muscle-eye-brain disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018939",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    }
  ],
  "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": 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": 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"
    }
  ],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}