{
  "id": 19355,
  "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019548",
  "properties": {
    "xrefs": [
      "GARD:0012436",
      "MEDGEN:1826161",
      "Orphanet:90114",
      "UMLS:C5680178"
    ],
    "synonyms": [
      "CMTDI",
      "autosomal dominant intermediate Charcot-Marie-Tooth disease",
      "intermediate Charcot-Marie-Tooth disease, autosomal dominant",
      "autosomal dominant intermediate Charcot-Marie-Tooth"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant form of intermediate Charcot-Marie-Tooth disease."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 18739,
      "label": "intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16413
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050543",
          "GARD:0021954",
          "MEDGEN:1826149",
          "NANDO:1200019",
          "Orphanet:476123",
          "UMLS:C5680108",
          "icd11.foundation:1389094589"
        ],
        "synonyms": [
          "Charcot-Marie-Tooth disease intermediate type",
          "Intermediate hereditary motor and sensory neuropathy",
          "Charcot-Marie-Tooth disease dominant intermediate",
          "Charcot-Marie-Tooth disease recessive intermediate"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018778"
    }
  ],
  "children": [
    {
      "id": 12764,
      "label": "Charcot-Marie-Tooth disease dominant intermediate B",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110197",
          "GARD:0012438",
          "MEDGEN:338346",
          "OMIM:606482",
          "Orphanet:100044",
          "SCTID:765745007",
          "UMLS:C1847902"
        ],
        "synonyms": [
          "CMTDI1",
          "CMTDIB",
          "Charcot-Marie-Tooth disease caused by mutation in DNM2",
          "Charcot-Marie-Tooth disease dominant intermediate type B",
          "Charcot-Marie-Tooth disease, axonal type 2M",
          "Charcot-Marie-Tooth disease, dominant Intermediate type B",
          "DI-CMTB",
          "DNM2 Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M",
          "Charcot-Marie-Tooth disease, axonal, type 2M",
          "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia",
          "Charcot-Marie-Tooth disease, dominant intermediate B",
          "Charcot-Marie-Tooth neuropathy, axonal, type 2M",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate B",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia",
          "Cmtdi1",
          "DNM2-related intermediate Charcot-Marie-Tooth neuropathy",
          "Di-CMTB",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
      },
      "child_count": 1,
      "reference_id": "MONDO:0011674"
    },
    {
      "id": 12765,
      "label": "Charcot-Marie-Tooth Disease, axonal, type 2GG",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110202",
          "GARD:0012437",
          "MEDGEN:1794143",
          "MESH:C564702",
          "OMIM:606483",
          "Orphanet:100043",
          "SCTID:765744006",
          "UMLS:C5561933"
        ],
        "synonyms": [
          "CMT2GG",
          "CMTDIA",
          "Charcot-Marie-Tooth disease dominant intermediate type A",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type A",
          "Charcot-Marie-Tooth disease, dominant intermediate A",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate a",
          "Di-Cmta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011675"
    },
    {
      "id": 12984,
      "label": "Charcot-Marie-Tooth disease dominant intermediate D",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110200",
          "GARD:0009207",
          "MEDGEN:334318",
          "MESH:C564333",
          "OMIM:607791",
          "Orphanet:100046",
          "SCTID:765747004",
          "UMLS:C1843075"
        ],
        "synonyms": [
          "CMTDID",
          "Charcot-Marie-Tooth disease caused by mutation in MPZ",
          "Charcot-Marie-Tooth disease dominant intermediate type D",
          "Charcot-Marie-Tooth disease, dominant Intermediate type D",
          "DI-CMTD",
          "MPZ Charcot-Marie-Tooth disease",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type D",
          "Charcot Marie Tooth disease dominant intermediate 3",
          "Charcot-Marie-Tooth disease, dominant intermediate D",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate D",
          "Di-Cmtd",
          "MPZ-related intermediate Charcot-Marie-Tooth neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011909"
    },
    {
      "id": 13083,
      "label": "Charcot-Marie-Tooth disease dominant intermediate C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110199",
          "GARD:0012439",
          "MEDGEN:334023",
          "MESH:C564257",
          "OMIM:608323",
          "Orphanet:100045",
          "SCTID:765746008",
          "UMLS:C1842237"
        ],
        "synonyms": [
          "CMTDIC",
          "Charcot-Marie-Tooth disease caused by mutation in YARS",
          "Charcot-Marie-Tooth disease dominant intermediate type C",
          "Charcot-Marie-Tooth disease, dominant Intermediate type C",
          "DI-CMTC",
          "YARS Charcot-Marie-Tooth disease",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type C",
          "Charcot-Marie-Tooth disease, dominant intermediate C",
          "Charcot-Marie-Tooth neuropathy, dominant Intermediate C",
          "Di-Cmtc",
          "YARS-related intermediate Charcot-Marie-Tooth neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012012"
    },
    {
      "id": 14776,
      "label": "Charcot-Marie-Tooth disease dominant intermediate E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110205",
          "GARD:0012011",
          "MEDGEN:928336",
          "OMIM:614455",
          "Orphanet:93114",
          "SCTID:722294004",
          "UMLS:C4302667"
        ],
        "synonyms": [
          "CMTDIE",
          "Charcot-Marie-Tooth disease dominant intermediate E",
          "Charcot-Marie-Tooth disease dominant intermediate type E",
          "Charcot-Marie-Tooth disease, dominant Intermediate type E",
          "Charcot-Marie-Tooth disease-nephropathy syndrome",
          "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type E",
          "Charcot-Marie-Tooth disease - nephropathy",
          "Charcot-Marie-Tooth disease, dominant intermediate E"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013758"
    },
    {
      "id": 15083,
      "label": "Charcot-Marie-Tooth disease dominant intermediate F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110206",
          "GARD:0009206",
          "MEDGEN:1666273",
          "OMIM:615185",
          "Orphanet:352670",
          "UMLS:C4749463"
        ],
        "synonyms": [
          "CMTDIF",
          "Charcot-Marie-Tooth disease dominant intermediate type F",
          "Charcot-Marie-Tooth disease, dominant Intermediate type F",
          "autosomal dominant intermediate Charcot-Marie-Tooth disease type F",
          "Charcot-Marie-Tooth disease, dominant intermediate F",
          "DI-CMTF",
          "GNB4-related intermediate Charcot-Marie-Tooth neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014074"
    },
    {
      "id": 18137,
      "label": "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021446",
          "MEDGEN:1650625",
          "Orphanet:324585",
          "UMLS:C4755257"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017937"
    },
    {
      "id": 25639,
      "label": "Charcot-Marie-Tooth disease, dominant intermediate A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19355
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026807",
          "MEDGEN:376235",
          "OMIM:620378",
          "UMLS:C1847896"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957273"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18739,
      "label": "intermediate Charcot-Marie-Tooth disease"
    }
  ]
}