{
  "id": 9084,
  "label": "Holt-Oram syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007732",
  "properties": {
    "xrefs": [
      "DOID:0060468",
      "GARD:0006666",
      "ICD9:759.89",
      "MEDGEN:120524",
      "MESH:C535326",
      "MedDRA:10050469",
      "NCIT:C125592",
      "NORD:1248",
      "OMIM:142900",
      "Orphanet:392",
      "SCTID:19092004",
      "UMLS:C0265264",
      "icd11.foundation:1169240278"
    ],
    "synonyms": [
      "atrio digital syndrome",
      "atrio-digital syndrome",
      "atriodigital dysplasia",
      "heart-hand syndrome",
      "HOLT-Oram syndrome",
      "HOS",
      "Holt Oram Syndrome",
      "Holt-Oram syndrome",
      "atriodigital dysplasia type 1",
      "heart-hand syndrome type 1",
      "Cardiac-limb syndrome",
      "HOS 1",
      "Hos1",
      "heart-hand syndrome, type 1",
      "ventriculo-radial syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020573",
          "MEDGEN:1853290",
          "Orphanet:228184",
          "UMLS:C5848054"
        ],
        "synonyms": [
          "atriodigital dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies."
      },
      "child_count": 24,
      "reference_id": "MONDO:0016432"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 9057,
      "label": "heart-hand syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002614",
          "MEDGEN:333883",
          "MESH:C535853",
          "OMIM:140450",
          "Orphanet:1342",
          "SCTID:721013001",
          "UMLS:C1841657",
          "icd11.foundation:1878745129"
        ],
        "synonyms": [
          "Cardiomelic syndrome type 3",
          "atriodigital dysplasia type 3",
          "heart-hand syndrome, Spanish type",
          "heart-limb syndrome type 3",
          "brachydactyly and intraventricular conduction defect",
          "upper limb malformations and congenital cardiac anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007702"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}