{
  "id": 11799,
  "label": "Renpenning syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010653",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060309",
          "OMIMPS:309510",
          "Orphanet:98464"
        ],
        "synonyms": [
          "X-linked syndromic intellectual disability",
          "intellectual disability, X-linked syndromic",
          "mental retardation, X-linked syndromic",
          "syndromic X-linked intellectual disability",
          "syndromic intellectual disability, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A syndromic intellectual disability with an X-linked mode of inheritance."
      },
      "child_count": 162,
      "reference_id": "MONDO:0020119"
    }
  ],
  "children": [
    {
      "id": 19516,
      "label": "X-linked intellectual disability, Porteous type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019239",
          "MEDGEN:1842708",
          "Orphanet:93945",
          "UMLS:C5681616"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019766"
    },
    {
      "id": 19517,
      "label": "hamel cerebro-palato-cardiac syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019240",
          "MEDGEN:1842506",
          "Orphanet:93946",
          "UMLS:C5681615",
          "icd11.foundation:1903143844"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hamel cerebro-palato-cardiac 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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019767"
    },
    {
      "id": 19518,
      "label": "X-linked intellectual disability, Golabi-Ito-hall type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11799
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019768"
    },
    {
      "id": 19519,
      "label": "X-linked intellectual disability, Sutherland-Haan type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019242",
          "MEDGEN:1842836",
          "Orphanet:93950",
          "UMLS:C5681613"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019769"
    }
  ],
  "roots": [
    {
      "id": 19742,
      "label": "X-linked syndromic intellectual disability"
    }
  ]
}