{
  "id": 29261,
  "label": "dyneinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040031",
  "properties": {
    "xrefs": [
      "GARD:0027115"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3324,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050888",
          "MEDGEN:1842178",
          "UMLS:C5680525"
        ],
        "synonyms": [
          "syndrome associated with intellectual disability",
          "syndromic intellectual disability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A intellectual disability that is part of a larger syndrome."
      },
      "child_count": 34,
      "reference_id": "MONDO:0000508"
    },
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4419,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050535",
          "GARD:0001613",
          "ICD9:362.10",
          "MEDGEN:573220",
          "MESH:C580083",
          "OMIMPS:133780",
          "Orphanet:891",
          "SCTID:232063007",
          "UMLS:C0339539"
        ],
        "synonyms": [
          "Criswick-Schepens syndrome",
          "FEVR",
          "familial exudative vitreoretinopathy",
          "exudative vitreoretinopathy, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019516"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [
    {
      "id": 14669,
      "label": "Charcot-Marie-Tooth disease axonal type 2O",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18909,
        29261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110175",
          "GARD:0012434",
          "MEDGEN:481850",
          "OMIM:614228",
          "Orphanet:284232",
          "UMLS:C3280220"
        ],
        "synonyms": [
          "CMT2O",
          "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1",
          "Charcot-Marie-Tooth disease, axonal, type 20",
          "DYNC1H1 Charcot-Marie-Tooth disease",
          "autosomal dominant Charcot-Marie-Tooth disease type 2O",
          "Charcot-Marie-Tooth disease type 2O",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O",
          "Charcot-Marie-Tooth disease, axonal, type 2O",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2O"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013644"
    },
    {
      "id": 14821,
      "label": "intellectual disability, autosomal dominant 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24323,
        29261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061144",
          "DOID:0070043",
          "GARD:0016462",
          "MEDGEN:482832",
          "OMIM:614563",
          "UMLS:C3281202"
        ],
        "synonyms": [
          "DYNC1H1 autosomal dominant non-syndromic intellectual disability",
          "MRD13",
          "autosomal dominant intellectual disability 13",
          "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1",
          "intellectual disability, autosomal dominant 13",
          "intellectual disability, autosomal dominant 13, with neuronal migration defects",
          "intellectual disability, autosomal dominant type 13",
          "mental retardation, autosomal dominant type 13",
          "autosomal dominant non-syndromic intellectual disability 13",
          "intellectual disability, autosomal dominant, 13, with neuronal migration defects",
          "mental retardation, autosomal dominant 13",
          "mental retardation, autosomal dominant, 13, with neuronal migration defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013805"
    }
  ],
  "roots": [
    {
      "id": 2961,
      "label": "syndromic intellectual disability"
    },
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}