{
  "id": 18822,
  "label": "distal hereditary motor neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018894",
  "properties": {
    "xrefs": [
      "GARD:0012683",
      "MEDGEN:98274",
      "Orphanet:53739",
      "SCTID:230247001",
      "UMLS:C0393541"
    ],
    "synonyms": [
      "dHMN",
      "dSMA",
      "distal spinal muscular atrophy",
      "neuronopathy, distal hereditary motor"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 21302,
      "label": "hereditary motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19749,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019478",
          "MEDGEN:78728",
          "Orphanet:98505",
          "SCTID:49793008",
          "UMLS:C0270763"
        ],
        "synonyms": [
          "genetic anterior horn cell disease",
          "genetic motor neuron disease",
          "hereditary motor neuron disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 27,
      "reference_id": "MONDO:0024257"
    }
  ],
  "children": [
    {
      "id": 11507,
      "label": "X-linked distal spinal muscular atrophy type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        3724,
        18822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111196",
          "GARD:0016957",
          "MEDGEN:335168",
          "MESH:C564506",
          "OMIM:300489",
          "Orphanet:139557",
          "SCTID:766764008",
          "UMLS:C1845359"
        ],
        "synonyms": [
          "ATP7A spinal muscular atrophy",
          "ATP7A-related distal motor neuropathy",
          "DSMAX",
          "SMAX3",
          "X-linked dHMN type 3",
          "X-linked dHMN3",
          "X-linked dSMA type 3",
          "X-linked dSMA3",
          "X-linked distal hereditary motor neuropathy type 3",
          "spinal muscular atrophy caused by mutation in ATP7A",
          "spinal muscular atrophy, distal, X-linked 3, X-linked recessive",
          "spinal muscular atrophy, distal, X-linked type 3",
          "Dsmax",
          "spinal muscular atrophy, distal, X-linked 3",
          "spinal muscular atrophy, distal, X-linked recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010338"
    },
    {
      "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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 21302,
      "label": "hereditary motor neuron disease"
    }
  ]
}