{
  "id": 9368,
  "label": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008045",
  "properties": {
    "xrefs": [
      "DOID:0111527",
      "GARD:0003875",
      "ICD9:345.10",
      "MEDGEN:371854",
      "MESH:C537563",
      "OMIM:159950",
      "Orphanet:2590",
      "SCTID:703524005",
      "UMLS:C1834569"
    ],
    "synonyms": [
      "Jankovic-Rivera syndrome",
      "hereditary myoclonus-progressive distal muscular atrophy syndrome",
      "Jankovic Rivera syndrome",
      "SMAPME",
      "hereditary myoclonus and progressive distal muscular atrophy",
      "myoclonus hereditary progressive distal muscular atrophy",
      "myoclonus, hereditary, with progressive distal muscular atrophy",
      "spinal muscular atrophy with progressive myoclonic epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus."
  },
  "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": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "id": 24249,
      "label": "ASAH1-related sphingolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026262"
        ],
        "synonyms": [
          "ASAH1-related disorders",
          "ASAH1-related sphingolipidosis",
          "acid ceramidase deficiency"
        ],
        "definition": "A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100524"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    },
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 24249,
      "label": "ASAH1-related sphingolipidosis"
    }
  ]
}