{
  "id": 19518,
  "label": "X-linked intellectual disability, Golabi-Ito-hall type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019768",
  "properties": {
    "xrefs": [
      "GARD:0019241",
      "MEDGEN:1842639",
      "Orphanet:93947",
      "UMLS:C5681614"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11799,
      "label": "Renpenning syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060179",
          "GARD:0009509",
          "ICD9:759.89",
          "MEDGEN:208670",
          "MESH:C537761",
          "NCIT:C165533",
          "OMIM:309500",
          "Orphanet:3242",
          "SCTID:699669001",
          "UMLS:C0796135",
          "icd11.foundation:1415315699"
        ],
        "synonyms": [
          "Golabi-Ito-Hall syndrome",
          "Renpenning syndrome",
          "Renpenning syndrome type 1",
          "Sutherland-Haan X-linked intellectual disability syndrome",
          "Sutherland-Haan X-linked mental retardation syndrome",
          "X-linked intellectual disability Renpenning type",
          "X-linked intellectual disability due to PQBP1 mutations",
          "X-linked intellectual disability with spastic diplegia",
          "X-linked intellectual disability, Renpenning type",
          "renpenning syndrome, X-linked recessive",
          "syndromic X-linked intellectual disability 8",
          "MRXS3",
          "MRXS8",
          "RENS1",
          "Renpenning syndrome 1",
          "Sutherland-Haan syndrome",
          "X-linked intellectual disability syndromic 3",
          "X-linked mental retardation syndromic 3",
          "intellectual disability, X-linked 55",
          "intellectual disability, X-linked Renpenning type",
          "intellectual disability, X-linked, Renpenning type",
          "intellectual disability, X-linked, syndromic 3",
          "intellectual disability, X-linked, syndromic 8",
          "intellectual disability, X-linked, with spastic diplegia",
          "mental retardation, X-linked 55",
          "mental retardation, X-linked Renpenning type",
          "mental retardation, X-linked, Renpenning type",
          "mental retardation, X-linked, syndromic 3",
          "mental retardation, X-linked, syndromic 8",
          "mental retardation, X-linked, with spastic diplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010653"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11799,
      "label": "Renpenning syndrome"
    }
  ]
}