{
  "id": 11993,
  "label": "macrocephaly-spastic paraplegia-dysmorphism syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010858",
  "properties": {
    "xrefs": [
      "GARD:0016598",
      "MEDGEN:373933",
      "MESH:C563963",
      "OMIM:600302",
      "Orphanet:2429",
      "SCTID:716108004",
      "UMLS:C1838281"
    ],
    "synonyms": [
      "Fryns macrocephaly",
      "macrocephaly with spastic paraplegia and distinctive craniofacial appearance"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5637,
        21292,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2476",
          "GARD:0006637",
          "ICD10CM:G11.4",
          "ICD9:334.1",
          "MEDGEN:20844",
          "MESH:D015419",
          "MedDRA:10019903",
          "NANDO:1200052",
          "NCIT:C140267",
          "NORD:1238",
          "OMIMPS:303350",
          "Orphanet:685",
          "SCTID:39912006",
          "UMLS:C0037773",
          "icd11.foundation:810807375"
        ],
        "synonyms": [
          "spastic paraplegia",
          "HSP",
          "SPG",
          "Strümpell-Lorrain disease",
          "familial spastic paraplegia",
          "hereditary spastic paraparesis",
          "FSP",
          "familial spastic paraparesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs."
      },
      "child_count": 135,
      "reference_id": "MONDO:0019064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18959,
      "label": "hereditary spastic paraplegia"
    }
  ]
}