{
  "id": 17439,
  "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017058",
  "properties": {
    "xrefs": [
      "GARD:0012452",
      "MEDGEN:1843095",
      "Orphanet:268337",
      "UMLS:C5679732"
    ],
    "synonyms": [
      "RI-CMT",
      "autosomal recessive intermediate Charcot-Marie-Tooth disease",
      "intermediate Charcot-Marie-Tooth disease, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 13085,
      "label": "Charcot-Marie-Tooth disease recessive intermediate A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110201",
          "GARD:0012453",
          "MEDGEN:334012",
          "MESH:C564256",
          "OMIM:608340",
          "Orphanet:217055",
          "UMLS:C1842197"
        ],
        "synonyms": [
          "CMTRIA",
          "Charcot-Marie-Tooth disease caused by mutation in GDAP1",
          "Charcot-Marie-Tooth disease recessive intermediate type A",
          "Charcot-Marie-Tooth disease, recessive Intermediate type a",
          "GDAP1 Charcot-Marie-Tooth disease",
          "RI-CMT type A",
          "RI-CMTA",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease type A",
          "Charcot-Marie-Tooth disease, recessive intermediate A",
          "Charcot-Marie-Tooth disease, recessive intermediate, A",
          "Charcot-Marie-Tooth neuropathy, recessive Intermediate a",
          "Ri-Cmta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
      },
      "child_count": 2,
      "reference_id": "MONDO:0012014"
    },
    {
      "id": 14373,
      "label": "Charcot-Marie-Tooth disease recessive intermediate B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110204",
          "GARD:0012454",
          "MEDGEN:462247",
          "OMIM:613641",
          "Orphanet:254334",
          "UMLS:C3150897"
        ],
        "synonyms": [
          "CMTRIB",
          "Charcot-Marie-Tooth disease caused by mutation in KARS",
          "Charcot-Marie-Tooth disease recessive intermediate type B",
          "Charcot-Marie-Tooth disease, recessive Intermediate type B",
          "KARS Charcot-Marie-Tooth disease",
          "RI-CMT type B",
          "RI-CMTB",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease type B",
          "Charcot-Marie-Tooth disease, recessive intermediate B",
          "Charcot-Marie-Tooth disease, recessive intermediate, B",
          "Charcot-Marie-Tooth neuropathy, recessive Intermediate B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013338"
    },
    {
      "id": 15161,
      "label": "Charcot-Marie-Tooth disease recessive intermediate C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110198",
          "GARD:0017587",
          "MEDGEN:815639",
          "OMIM:615376",
          "Orphanet:369867",
          "UMLS:C3809309"
        ],
        "synonyms": [
          "CMTRIC",
          "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5",
          "Charcot-Marie-Tooth disease recessive intermediate type C",
          "Charcot-Marie-Tooth disease, recessive Intermediate type C",
          "PLEKHG5 Charcot-Marie-Tooth disease",
          "RI-CMT type C",
          "RI-CMTC",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease type C",
          "Charcot-Marie-Tooth disease, recessive intermediate C",
          "Charcot-Marie-Tooth neuropathy, recessive Intermediate C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014154"
    },
    {
      "id": 15466,
      "label": "Charcot-Marie-Tooth disease recessive intermediate D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        17439
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110203",
          "GARD:0017723",
          "MEDGEN:1800450",
          "OMIM:616039",
          "Orphanet:435998",
          "UMLS:C5569027"
        ],
        "synonyms": [
          "CMTRID",
          "COX6A1 Charcot-Marie-Tooth disease",
          "Charcot-Marie-Tooth disease caused by mutation in COX6A1",
          "Charcot-Marie-Tooth disease recessive intermediate type D",
          "Charcot-Marie-Tooth disease, recessive Intermediate type D",
          "RI-CMT type D",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease type D",
          "Charcot-Marie-Tooth disease, recessive intermediate D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014467"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18739,
      "label": "intermediate Charcot-Marie-Tooth disease"
    }
  ]
}