{
  "id": 18971,
  "label": "proximal spinal muscular atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019079",
  "properties": {
    "xrefs": [
      "GARD:0004531",
      "MEDGEN:870510",
      "NANDO:2100231",
      "NORD:1729",
      "Orphanet:70",
      "UMLS:C4024957"
    ],
    "synonyms": [
      "SMA",
      "Spinal Muscular Atrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 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"
    }
  ],
  "children": [
    {
      "id": 10883,
      "label": "spinal muscular atrophy, type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13137",
          "GARD:0007883",
          "ICD9:335.0",
          "MEDGEN:1845578",
          "NANDO:1200004",
          "NCIT:C98670",
          "NORD:1844",
          "OMIM:253300",
          "Orphanet:83330",
          "SCTID:64383006",
          "UMLS:C5848259",
          "icd11.foundation:915903258"
        ],
        "synonyms": [
          "infantile muscular atrophy",
          "infantile spinal muscular atrophy",
          "spinal muscular atrophies of childhood",
          "SMA type 1",
          "SMA type I",
          "SMA-I",
          "SMA1",
          "SMNI",
          "Werdnig Hoffmann disease",
          "Werdnig-Hoffman disease",
          "Werdnig-Hoffmann Disease",
          "Werdnig-Hoffmann disease",
          "severe infantile spinal muscular atrophy",
          "spinal muscular atrophy-1",
          "survival motor neuron spinal muscular atrophy",
          "SMA, infantile acute form",
          "muscular atrophy, infantile",
          "proximal spinal muscular atrophy type 1",
          "proximal spinal muscular atrophy, type 1",
          "spinal muscular atrophy 1",
          "spinal muscular atrophy, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009669"
    },
    {
      "id": 10886,
      "label": "spinal muscular atrophy, type III",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12376",
          "GARD:0000198",
          "ICD9:335.11",
          "MEDGEN:101816",
          "NANDO:1200006",
          "NCIT:C118847",
          "NORD:1342",
          "OMIM:253400",
          "Orphanet:83419",
          "SCTID:54280009",
          "UMLS:C0152109",
          "icd11.foundation:677572815"
        ],
        "synonyms": [
          "childhood spinal muscular atrophy",
          "juvenile spinal muscular atrophy",
          "Kugelberg Welander Syndrome",
          "Kugelberg-Welander disease",
          "SMA type 3",
          "SMA type III",
          "SMA-III",
          "SMA3",
          "spinal muscular atrophy III",
          "spinal muscular atrophy type 3",
          "spinal muscular atrophy, familial",
          "spinal muscular atrophy, type III",
          "spinal muscular atrophy, type III, modifier of",
          "spinal muscular atrophy-3",
          "KWS",
          "Kugelberg-Welander syndrome",
          "SMA 3",
          "Sma 3",
          "muscular atrophy, juvenile",
          "paediatric spinal muscular atrophy",
          "pediatric spinal muscular atrophy",
          "proximal spinal muscular atrophy type 3",
          "spinal muscular atrophy of childhood",
          "spinal muscular atrophy, mild childhood and adolescent form",
          "spinal muscular atrophy, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009672"
    },
    {
      "id": 10887,
      "label": "spinal muscular atrophy, type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050530",
          "GARD:0004945",
          "ICD9:335.19",
          "MEDGEN:95975",
          "MESH:C536879",
          "NANDO:1200005",
          "OMIM:253550",
          "Orphanet:83418",
          "SCTID:128212001",
          "UMLS:C0393538",
          "icd11.foundation:867148636"
        ],
        "synonyms": [
          "Intermediate spinal muscular atrophy",
          "SMA type 2",
          "SMA type II",
          "SMA-II",
          "SMA2",
          "chronic infantile spinal muscular atrophy",
          "chronic spinal muscular atrophy",
          "muscular atrophy, spinal, infantile chronic form",
          "muscular atrophy, spinal, intermediate type",
          "spinal muscular atrophy, type II",
          "spinal muscular atrophy-2",
          "Dubowitz disease",
          "SMA II",
          "Sma 2",
          "muscular atrophy, spinal, Intermediate type",
          "proximal spinal muscular atrophy type 2",
          "spinal muscular atrophy type 2",
          "spinal muscular atrophy type II",
          "spinal muscular atrophy, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009673"
    },
    {
      "id": 11247,
      "label": "spinal muscular atrophy, type IV",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050529",
          "GARD:0000564",
          "ICD9:335.19",
          "MEDGEN:325364",
          "MESH:C563948",
          "NANDO:1200007",
          "OMIM:271150",
          "Orphanet:83420",
          "SCTID:85505000",
          "UMLS:C1838230",
          "icd11.foundation:443229384"
        ],
        "synonyms": [
          "SMA type 4",
          "SMA type IV",
          "SMA-IV",
          "SMA4",
          "spinal muscular atrophy of adults",
          "spinal muscular atrophy, adult form",
          "spinal muscular atrophy, type IV",
          "spinal muscular atrophy-4",
          "SMA 4",
          "adult-onset spinal muscular atrophy",
          "proximal spinal muscular atrophy type 4",
          "spinal muscular atrophy 4",
          "spinal muscular atrophy type 4",
          "spinal muscular atrophy, proximal, adult, autosomal recessive",
          "spinal muscular atrophy, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010056"
    },
    {
      "id": 15035,
      "label": "lower motor neuron syndrome with late-adult onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081356",
          "GARD:0017282",
          "MEDGEN:767312",
          "OMIM:615048",
          "Orphanet:276435",
          "UMLS:C3554398",
          "icd11.foundation:1650555742"
        ],
        "synonyms": [
          "SMAJ",
          "spinal muscular atrophy, Jokela type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014025"
    },
    {
      "id": 18328,
      "label": "autosomal dominant childhood-onset proximal spinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070348",
          "GARD:0017559",
          "MEDGEN:322470",
          "OMIMPS:158600",
          "Orphanet:363447",
          "UMLS:C1834690"
        ],
        "synonyms": [
          "SMALED",
          "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy",
          "spinal muscular atrophy, lower extremity-predominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018190"
    }
  ],
  "roots": [
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}