{
  "id": 16736,
  "label": "bulbospinal muscular atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016113",
  "properties": {
    "xrefs": [
      "GARD:0020365",
      "MEDGEN:95977",
      "NANDO:1200001",
      "Orphanet:206701",
      "SCTID:230253001",
      "UMLS:C0393547",
      "icd11.foundation:1604214898"
    ],
    "synonyms": [
      "SBMA",
      "bulbospinal muscular atrophy",
      "spinal and bulbal muscular atrophy",
      "spinal-bulbar muscular atrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 16137,
      "label": "spinal atrophy-ophthalmoplegia-pyramidal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004942",
          "MEDGEN:419294",
          "MESH:C535625",
          "Orphanet:1217",
          "UMLS:C2930956"
        ],
        "synonyms": [
          "Hamano-Tsukamoto syndrome",
          "Hamano Tsukamoto syndrome",
          "infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms",
          "spinal atrophy ophthalmoplegia pyramidal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015250"
    },
    {
      "id": 16924,
      "label": "pontocerebellar hypoplasia type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        16736,
        19320,
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112322",
          "GARD:0010704",
          "MEDGEN:1780208",
          "MESH:C548069",
          "Orphanet:2254",
          "SCTID:718610008",
          "UMLS:C5442006",
          "icd11.foundation:1227773923"
        ],
        "synonyms": [
          "MRT32",
          "Norman disease",
          "PCH1",
          "mental retardation, autosomal recessive 32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016396"
    },
    {
      "id": 17204,
      "label": "pontocerebellar hypoplasia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16736,
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112328",
          "GARD:0010705",
          "MEDGEN:420956",
          "MESH:C548070",
          "NCIT:C124057",
          "Orphanet:2524",
          "SCTID:715463008",
          "UMLS:C2932714",
          "icd11.foundation:1158649247"
        ],
        "synonyms": [
          "PCH2",
          "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016759"
    }
  ],
  "roots": [
    {
      "id": 3724,
      "label": "spinal muscular atrophy"
    }
  ]
}