{
  "id": 12681,
  "label": "autosomal recessive distal spinal muscular atrophy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011585",
  "properties": {
    "xrefs": [
      "DOID:0111065",
      "GARD:0010133",
      "MEDGEN:344189",
      "MESH:C535715",
      "OMIM:605726",
      "Orphanet:139552",
      "SCTID:763533003",
      "UMLS:C1854023"
    ],
    "synonyms": [
      "DSMA2",
      "autosomal recessive distal spinal muscular atrophy type 2",
      "dHMNJ",
      "spinal muscular atrophy, distal, autosomal recessive, type 2",
      "HMNJ",
      "MNDJ",
      "distal hereditary motor neuropathy, Jerash type",
      "hereditary motor neuropathy, Jerash type",
      "motor neuropathy, distal, Jerash type",
      "neuronopathy, distal hereditary motor, Jerash type",
      "neuropathy, distal hereditary motor, Jerash type",
      "spinal muscular atrophy, Jerash type",
      "spinal muscular atrophy, distal, autosomal recessive, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)."
  },
  "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"
    }
  ]
}