{
  "id": 19356,
  "label": "severe early-onset axonal neuropathy due to MFN2 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019549",
  "properties": {
    "xrefs": [
      "GARD:0019123",
      "MEDGEN:1641956",
      "Orphanet:90118",
      "SCTID:766977007",
      "UMLS:C4707897"
    ],
    "synonyms": [
      "AR-CMT2, Ouvrier type",
      "SEOAN due to MFN2 deficiency",
      "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012685",
          "ICD10CM:G60.0",
          "MEDGEN:45066",
          "MESH:D015417",
          "NANDO:2200855",
          "Orphanet:140450",
          "SCTID:398100001",
          "UMLS:C0027888",
          "icd11.foundation:1538134578"
        ],
        "synonyms": [
          "HMSN"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
      },
      "child_count": 8,
      "reference_id": "MONDO:0015358"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16220,
      "label": "hereditary motor and sensory neuropathy"
    }
  ]
}