{
  "id": 16057,
  "label": "autosomal dominant spastic paraplegia type 9",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015091",
  "properties": {
    "xrefs": [
      "GARD:0025059",
      "MEDGEN:322007",
      "Orphanet:100990",
      "UMLS:C1832669",
      "icd11.foundation:1867328407"
    ],
    "synonyms": [
      "ALDH18A1 autosomal dominant complex spastic paraplegia",
      "SPG9",
      "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1",
      "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome",
      "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome",
      "autosomal dominant spastic paraparesis",
      "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy",
      "cataracts, motor neuronopathy, short stature and skeletal abnormalities",
      "spastic paraplegia 9"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019770",
          "MEDGEN:1842369",
          "Orphanet:100979",
          "UMLS:C5680379"
        ],
        "synonyms": [
          "autosomal dominant complex HSP",
          "autosomal dominant complex SPG",
          "autosomal dominant complex hereditary spastic paraplegia",
          "autosomal dominant complicated HSP",
          "autosomal dominant complicated SPG",
          "autosomal dominant complicated spastic paraplegia",
          "complex hereditary spastic paraplegia, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of complex hereditary spastic paraplegia."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015087"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17672,
        17673
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026056"
        ],
        "synonyms": [
          "P5CS deficiency",
          "delta1-pyrroline-5-carboxylate synthetase deficiency"
        ],
        "definition": "An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100126"
    }
  ],
  "children": [
    {
      "id": 12132,
      "label": "hereditary spastic paraplegia 9A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110824",
          "GARD:0009583",
          "MEDGEN:1800401",
          "MESH:C536868",
          "OMIM:601162",
          "Orphanet:447753",
          "UMLS:C5568978"
        ],
        "synonyms": [
          "AD-SPG9A",
          "SPG9A",
          "hereditary spastic paraplegia type 9A",
          "cataracts with motor neuronopathy, short stature, and skeletal abnormalities",
          "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux",
          "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux",
          "spastic paraplegia 9A, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011006"
    },
    {
      "id": 18640,
      "label": "autosomal dominant complex spastic paraplegia type 9B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16057
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021866",
          "MEDGEN:1800402",
          "Orphanet:447757",
          "UMLS:C5568979"
        ],
        "synonyms": [
          "AD-SPG9B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018644"
    }
  ],
  "roots": [
    {
      "id": 16056,
      "label": "autosomal dominant complex spastic paraplegia"
    },
    {
      "id": 23875,
      "label": "P5CS deficiency"
    }
  ]
}