{
  "id": 16946,
  "label": "heart-hand syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016432",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 8617,
      "label": "brachydactyly-long thumb syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16946
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000968",
          "MEDGEN:350609",
          "MESH:C566204",
          "OMIM:112430",
          "Orphanet:2946",
          "SCTID:733454004",
          "UMLS:C1862169"
        ],
        "synonyms": [
          "brachydactyly, long thumb type",
          "brachydactyly long thumb type",
          "brachydactyly, long-thumb type",
          "long-thumb brachydactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007212"
    },
    {
      "id": 9084,
      "label": "Holt-Oram syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16089,
        16946,
        19479,
        24272
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0007732"
    },
    {
      "id": 12558,
      "label": "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16946,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017148",
          "MEDGEN:346902",
          "MESH:C565782",
          "OMIM:604381",
          "Orphanet:228190",
          "UMLS:C1858420"
        ],
        "synonyms": [
          "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome",
          "patent ductus arteriosus and bicuspid aortic valve with hand anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011454"
    },
    {
      "id": 13202,
      "label": "Carney complex - trismus - pseudocamptodactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16167,
        16946
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017448",
          "MEDGEN:332400",
          "OMIM:608837",
          "Orphanet:319340",
          "UMLS:C1837245"
        ],
        "synonyms": [
          "Carney complex variant",
          "CARNEY complex variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012137"
    },
    {
      "id": 13468,
      "label": "heart-hand syndrome, Slovenian type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16946
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009846",
          "MEDGEN:341859",
          "MESH:C535852",
          "OMIM:610140",
          "Orphanet:168796",
          "SCTID:721014007",
          "UMLS:C1857829",
          "icd11.foundation:1814304618"
        ],
        "synonyms": [
          "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome",
          "atriodigital dysplasia, Slovenian type",
          "heart-hand syndrome, Slovenian type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012417"
    },
    {
      "id": 16166,
      "label": "heart-hand syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        16946
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009847",
          "MEDGEN:444030",
          "MESH:C536784",
          "Orphanet:1350",
          "SCTID:721010003",
          "UMLS:C2931323",
          "icd11.foundation:2111612055"
        ],
        "synonyms": [
          "Tabatznik syndrome",
          "atriodigital dysplasia type 2",
          "heart-hand syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015284"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}