{
  "id": 11635,
  "label": "blepharophimosis - intellectual disability syndrome, MKB type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010477",
  "properties": {
    "xrefs": [
      "GARD:0017341",
      "ICD9:759.89",
      "MEDGEN:785805",
      "OMIM:300895",
      "Orphanet:293707",
      "SCTID:699297004",
      "UMLS:C3698541"
    ],
    "synonyms": [
      "BMRS, MKB type",
      "BMRS, Maat-Kievit-Brunner type",
      "Ohdo syndrome, X-linked, X-linked recessive",
      "X-linked Ohdo syndrome",
      "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type",
      "OHDOX",
      "Ohdo syndrome, X-linked",
      "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3111,
      "label": "Ohdo syndrome and variants",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17701
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060289",
          "GARD:0022821"
        ],
        "synonyms": [
          "Ohdo blepharophimosis syndrome",
          "Ohdo syndrome"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0000734"
    },
    {
      "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": 23760,
      "label": "MED12-related intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026013"
        ],
        "synonyms": [
          "MED12 X-linked syndromic intellectual disability",
          "MED12-related intellectual disability syndrome",
          "X-linked syndromic intellectual disability caused by mutation in MED12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100000"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3111,
      "label": "Ohdo syndrome and variants"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 23760,
      "label": "MED12-related intellectual disability syndrome"
    }
  ]
}