{
  "id": 11713,
  "label": "MASA syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010559",
  "properties": {
    "xrefs": [
      "DOID:0060246",
      "GARD:0006986",
      "MEDGEN:162894",
      "NCIT:C129930",
      "OMIM:303350",
      "Orphanet:2466",
      "SCTID:716996008",
      "UMLS:C0795953",
      "icd11.foundation:1973644723"
    ],
    "synonyms": [
      "Gareis-Mason syndrome",
      "MASA syndrome",
      "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome",
      "masa syndrome, X-linked recessive",
      "spastic paraplegia, X-linked",
      "CRASH syndrome",
      "CRASH syndrome, X-linked recessive",
      "Clasped thumb and intellectual disability",
      "Clasped thumb and mental retardation",
      "adducted thumb with intellectual disability",
      "adducted thumb with mental retardation",
      "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)",
      "intellectual disability, aphasia, shuffling Gait, and adducted thumbs",
      "mental retardation aphasia shuffling Gait adducted thumbs (MASA)",
      "mental retardation, aphasia, shuffling Gait, and adducted thumbs",
      "spastic paraplegia 1",
      "spastic paraplegia 1, X-linked",
      "thumb congenital clasped with intellectual disability",
      "thumb congenital clasped with mental retardation",
      "thumb, congenital Clasped, with intellectual disability",
      "thumb, congenital Clasped, with mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18959
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019823",
          "MEDGEN:581446",
          "NANDO:1200054",
          "Orphanet:102013",
          "SCTID:230261006",
          "UMLS:C0393556"
        ],
        "synonyms": [
          "Complex HSP",
          "Complex SPG",
          "Complex familial spastic paraplegia",
          "complicated HSP",
          "complicated SPG",
          "complicated familial spastic paraplegia",
          "complicated hereditary spastic paraplegia",
          "syndrome associated with hereditary spastic paraplegia",
          "syndromic hereditary spastic paraplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary spastic paraplegia that is part of a larger syndrome."
      },
      "child_count": 100,
      "reference_id": "MONDO:0015150"
    },
    {
      "id": 17500,
      "label": "L1 syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012524",
          "MEDGEN:1830362",
          "NORD:1343",
          "Orphanet:275543",
          "UMLS:C5779710",
          "icd11.foundation:1457804873"
        ],
        "synonyms": [
          "CRASH syndrome",
          "L1 syndrome",
          "L1CAM syndrome",
          "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome"
        ],
        "definition": "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017140"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16082,
      "label": "complex hereditary spastic paraplegia"
    },
    {
      "id": 17500,
      "label": "L1 syndrome"
    }
  ]
}