{
  "id": 12475,
  "label": "blepharophimosis - intellectual disability syndrome, SBBYS type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011365",
  "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."
  },
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:28",
          "EFO:0001379",
          "ICD9:259.8",
          "ICD9:259.9",
          "MEDGEN:4043",
          "MESH:D004700",
          "NANDO:1100009",
          "NANDO:2100109",
          "NCIT:C3009",
          "SCTID:362969004",
          "UMLS:C0014130"
        ],
        "synonyms": [
          "disease of endocrine system",
          "disease or disorder of endocrine system",
          "disorder of endocrine system",
          "endocrine disease",
          "endocrine disorder",
          "endocrine system disease",
          "endocrine system disease or disorder",
          "endocrine system disorder",
          "endocrinopathy",
          "thyroid or other glandular disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the endocrine system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005151"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3111,
      "label": "Ohdo syndrome and variants"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 6875,
      "label": "endocrine system disorder"
    }
  ]
}