{
  "id": 11975,
  "label": "neuronopathy, distal hereditary motor, autosomal dominant 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010839",
  "properties": {
    "xrefs": [
      "DOID:0111215",
      "GARD:0001474",
      "MEDGEN:373984",
      "MESH:C563981",
      "OMIM:600175",
      "Orphanet:1216",
      "SCTID:763067000",
      "UMLS:C1838492"
    ],
    "synonyms": [
      "autosomal dominant benign distal spinal muscular atrophy",
      "autosomal dominant congenital benign spinal muscular atrophy",
      "congenital benign spinal muscular atrophy with contractures",
      "congenital nonprogressive spinal muscular atrophy",
      "HMN8",
      "neuronopathy, distal hereditary motor, type 8",
      "neuronopathy, distal hereditary motor, type VIII",
      "neuropathy, distal hereditary motor, type 8",
      "spinal muscular atrophy, congenital benign, with contractures",
      "spinal muscular atrophy, distal, congenital nonprogressive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        3724,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111198",
          "GARD:0019926",
          "MEDGEN:1787720",
          "OMIMPS:182960",
          "Orphanet:140465",
          "UMLS:C5548212"
        ],
        "synonyms": [
          "autosomal dominant dHMN",
          "autosomal dominant distal hereditary motor neuropathy",
          "autosomal dominant distal spinal muscular atrophy",
          "distal hereditary motor neuropathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal hereditary motor neuropathy."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015362"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16221,
      "label": "neuronopathy, distal hereditary motor, autosomal dominant"
    }
  ]
}