{
  "id": 12541,
  "label": "autosomal recessive distal spinal muscular atrophy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011436",
  "properties": {
    "xrefs": [
      "DOID:0111064",
      "GARD:0008592",
      "ICD9:335.19",
      "MEDGEN:388083",
      "MESH:C536880",
      "NORD:1994",
      "OMIM:604320",
      "Orphanet:98920",
      "SCTID:711483003",
      "UMLS:C1858517"
    ],
    "synonyms": [
      "DSMA1",
      "IGHMBP2 spinal muscular atrophy",
      "SIANRF",
      "SMARD1",
      "Spinal Muscular Atrophy with Respiratory Distress",
      "autosomal recessive distal spinal muscular atrophy 1",
      "autosomal recessive distal spinal muscular atrophy type 1",
      "autosomal recessive spinal muscular atrophy with respiratory distress",
      "dHMN6",
      "dSMA1",
      "diaphragmatic spinal muscular atrophy",
      "distal hereditary motor neuropathy type 6",
      "distal-HMN type 6",
      "severe infantile axonal neuropathy with respiratory failure type 1",
      "spinal muscular atrophy caused by mutation in IGHMBP2",
      "spinal muscular atrophy with respiratory distress type 1",
      "spinal muscular atrophy, distal, autosomal recessive, type 1",
      "HMN 6",
      "HMN VI",
      "Hmn6",
      "neuronopathy, Severe infantile axonal, with respiratory failure",
      "neuronopathy, distal hereditary motor, type 6",
      "neuronopathy, distal hereditary motor, type VI",
      "severe infantile axonal neuropathy with respiratory failure",
      "spinal muscular atrophy with respiratory distress 1",
      "spinal muscular atrophy, diaphragmatic",
      "spinal muscular atrophy, distal, autosomal recessive, 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features."
  },
  "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"
    }
  ]
}