{
  "id": 9968,
  "label": "pseudoprogeria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008694",
  "properties": {
    "xrefs": [
      "GARD:0000415",
      "MEDGEN:163218",
      "MESH:C563111",
      "OMIM:200130",
      "Orphanet:2985",
      "SCTID:733086003",
      "UMLS:C0796125"
    ],
    "synonyms": [
      "Hal-Berg-Rudolph syndrome",
      "absent eyebrows and eyelashes-intellectual disability syndrome",
      "eyebrows and eyelashes absence-intellectual disability syndrome",
      "pseudoprogeria syndrome",
      "absent eyebrows and eyelashes with intellectual disability",
      "absent eyebrows and eyelashes with mental retardation",
      "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose",
      "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose"
    ],
    "definition": "Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}