{
  "id": 13655,
  "label": "neuronopathy, distal hereditary motor, autosomal recessive 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012608",
  "properties": {
    "xrefs": [
      "DOID:0111213",
      "GARD:0017101",
      "MEDGEN:369682",
      "MESH:C567023",
      "OMIM:611067",
      "Orphanet:206580",
      "UMLS:C1970211"
    ],
    "synonyms": [
      "DSMA4",
      "autosomal recessive distal spinal muscular atrophy type 4",
      "autosomal recessive lower motor neuron disease with childhood onset",
      "dSMA4",
      "distal spinal muscular atrophy type 4",
      "neuronopathy, distal hereditary motor, autosomal recessive 4",
      "spinal muscular atrophy, distal, autosomal recessive, type 4",
      "spinal muscular atrophy, distal, autosomal recessive, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3724,
      "label": "spinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5143,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12377",
          "EFO:0008525",
          "GARD:0007674",
          "ICD9:335.1",
          "ICD9:335.10",
          "ICD9:335.19",
          "MEDGEN:7755",
          "MESH:D009134",
          "NANDO:1200003",
          "NANDO:2100231",
          "NANDO:2200853",
          "NCIT:C85075",
          "OMIMPS:253300",
          "SCTID:5262007",
          "UMLS:C0026847",
          "icd11.foundation:71074342"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 38,
      "reference_id": "MONDO:0001516"
    },
    {
      "id": 16222,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111197",
          "GARD:0019927",
          "MEDGEN:1779821",
          "OMIMPS:604320",
          "Orphanet:140468",
          "UMLS:C5548369"
        ],
        "synonyms": [
          "autosomal recessive dHMN",
          "autosomal recessive dSMA",
          "autosomal recessive distal hereditary motor neuropathy",
          "autosomal recessive distal spinal muscular atrophy",
          "distal hereditary motor neuropathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of distal hereditary motor neuropathy."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015363"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    },
    {
      "id": 16222,
      "label": "neuronopathy, distal hereditary motor, autosomal recessive"
    }
  ]
}