{
  "id": 14958,
  "label": "neuronopathy, distal hereditary motor, autosomal recessive 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013947",
  "properties": {
    "xrefs": [
      "DOID:0111214",
      "GARD:0017421",
      "MEDGEN:1667915",
      "OMIM:614881",
      "Orphanet:314485",
      "UMLS:C4749918"
    ],
    "synonyms": [
      "DSMA5",
      "Young adult-onset dHMN",
      "autosomal recessive distal spinal muscular atrophy type 5",
      "dSMA5",
      "spinal muscular atrophy, distal, autosomal recessive, type 5",
      "young adult-onset distal hereditary motor neuropathy",
      "spinal muscular atrophy, distal, autosomal recessive, 5"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared."
  },
  "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"
    }
  ]
}