{
  "id": 11507,
  "label": "X-linked distal spinal muscular atrophy type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010338",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "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": 18822,
      "label": "distal hereditary motor neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748,
        21302
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018894"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    },
    {
      "id": 18822,
      "label": "distal hereditary motor neuropathy"
    }
  ]
}