{
  "id": 3111,
  "label": "Ohdo syndrome and variants",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000734",
  "properties": {
    "xrefs": [
      "DOID:0060289",
      "GARD:0022821"
    ],
    "synonyms": [
      "Ohdo blepharophimosis syndrome",
      "Ohdo syndrome"
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17701,
      "label": "blepharophimosis - intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010892",
          "MEDGEN:1698793",
          "Orphanet:293642",
          "UMLS:C5229849"
        ],
        "synonyms": [
          "BMRS",
          "SBBYS syndrome",
          "Say Barber Biesecker Young-Simpson syndrome",
          "Young Simpson syndrome",
          "blepharophimosis intellectual disability syndromes",
          "blepharophimosis mental retardation syndromes",
          "blepharophimosis syndrome Ohdo type"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017393"
    }
  ],
  "children": [
    {
      "id": 10804,
      "label": "blepharophimosis - intellectual disability syndrome, Ohdo type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3111
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003348",
          "ICD9:374.89",
          "ICD9:525.8",
          "MEDGEN:162905",
          "OMIM:249620",
          "Orphanet:2728",
          "SCTID:412787009",
          "UMLS:C0796094"
        ],
        "synonyms": [
          "BMRS, Ohdo type",
          "Ohdo syndrome",
          "Ohdo-Madokoro-Sonoda syndrome",
          "blepharophimosis syndrome, Ohdo type",
          "Ohdo blepharophimosis syndrome",
          "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth",
          "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth"
        ],
        "definition": "Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009583"
    },
    {
      "id": 11635,
      "label": "blepharophimosis - intellectual disability syndrome, MKB type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3111,
        4427,
        23760
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010477"
    },
    {
      "id": 12475,
      "label": "blepharophimosis - intellectual disability syndrome, SBBYS type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3111,
        4370,
        5714,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060290",
          "GARD:0016618",
          "ICD9:759.89",
          "MEDGEN:350209",
          "MESH:C536717",
          "NANDO:1200681",
          "NANDO:2200982",
          "OMIM:603736",
          "Orphanet:3047",
          "SCTID:699298009",
          "UMLS:C1863557"
        ],
        "synonyms": [
          "Ohdo syndrome, SBBYS variant",
          "SBBYSS",
          "SBBYSS syndrome",
          "Say-Barber-Biesecker-Young-Simpson syndrome",
          "blepharophimosis - intellectual disability syndrome, SBBYS type",
          "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome",
          "Young-Simpson syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011365"
    }
  ],
  "roots": [
    {
      "id": 17701,
      "label": "blepharophimosis - intellectual disability syndrome"
    }
  ]
}