{
  "id": 19340,
  "label": "non-syndromic syndactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019530",
  "properties": {
    "xrefs": [
      "MEDGEN:1842957",
      "MedDRA:10042778",
      "NCIT:C87125",
      "Orphanet:90025",
      "UMLS:C5681365",
      "icd11.foundation:1736296640"
    ],
    "synonyms": [
      "nonsyndromic syndactyly",
      "chromosome 2q35 duplication syndrome",
      "isolated syndactyly",
      "symphalangism",
      "symphalangy",
      "syndactyly",
      "webbing of digits"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 20258,
      "label": "syndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6893,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11193",
          "HP:0001159",
          "ICD10CM:Q70",
          "ICD9:755.1",
          "MEDGEN:52619",
          "MESH:D013576",
          "MedDRA:10042778",
          "UMLS:C0039075"
        ],
        "synonyms": [
          "syndactyly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms."
      },
      "child_count": 6,
      "reference_id": "MONDO:0021002"
    }
  ],
  "children": [
    {
      "id": 3103,
      "label": "non-syndromic synpolydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19340,
        20703
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060242",
          "GARD:0022819"
        ],
        "synonyms": [
          "isolated synpolydactyly",
          "nonsyndromic synpolydactyly",
          "synpolydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A synpolydactyly that is not part of a larger syndrome."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000722"
    },
    {
      "id": 9803,
      "label": "syndactyly type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17368,
        19340,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111816",
          "GARD:0005081",
          "MEDGEN:348343",
          "OMIM:185900",
          "Orphanet:93402",
          "SCTID:715723008",
          "UMLS:C1861380",
          "icd11.foundation:1841508645"
        ],
        "synonyms": [
          "SDTY1",
          "Sd1",
          "Zygodactyly",
          "chromosome 2q35 DUPLICATION syndrome",
          "craniosynostosis, Philadelphia type",
          "syndactyly, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0008512"
    },
    {
      "id": 9805,
      "label": "syndactyly type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111817",
          "GARD:0005088",
          "MEDGEN:396117",
          "MESH:C538154",
          "OMIM:186100",
          "Orphanet:93404",
          "SCTID:715725001",
          "UMLS:C1861366",
          "icd11.foundation:144846004"
        ],
        "synonyms": [
          "GJA1 non-syndromic syndactyly",
          "SD3",
          "non-syndromic syndactyly caused by mutation in GJA1",
          "syndactyly of fingers 4 and 5",
          "Ring and Little finger syndactyly",
          "Sdty3",
          "syndactyly of fingers four and five",
          "syndactyly of the ring and little finger",
          "syndactyly, type 3",
          "syndactyly, type III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008514"
    },
    {
      "id": 9806,
      "label": "syndactyly type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111818",
          "GARD:0004434",
          "MEDGEN:350013",
          "MESH:C566092",
          "OMIM:186200",
          "Orphanet:93405",
          "SCTID:719158007",
          "UMLS:C1861355",
          "icd11.foundation:75755208"
        ],
        "synonyms": [
          "LMBR1 non-syndromic syndactyly",
          "non-syndromic syndactyly caused by mutation in LMBR1",
          "polysyndactyly, Haas type",
          "Haas type syndactyly",
          "SDTY4",
          "Sd4",
          "polysyndactyly type Haas",
          "syndactyly, type 4",
          "syndactyly, type IV"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008515"
    },
    {
      "id": 9807,
      "label": "syndactyly type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111819",
          "GARD:0005089",
          "MEDGEN:350010",
          "MESH:C538155",
          "OMIM:186300",
          "Orphanet:93406",
          "SCTID:719159004",
          "UMLS:C1861348",
          "icd11.foundation:283224140"
        ],
        "synonyms": [
          "SD5",
          "postaxial syndactyly with metacarpal synostosis",
          "SDTY5",
          "syndactyly with associated metacarpal and metatarsal fusion",
          "syndactyly with metacarpal and metatarsal fusion",
          "syndactyly, type 5",
          "syndactyly, type V"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008516"
    },
    {
      "id": 11814,
      "label": "syndactyly type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111813",
          "GARD:0003559",
          "MEDGEN:333392",
          "MESH:C564100",
          "OMIM:309630",
          "Orphanet:2498",
          "SCTID:715442006",
          "UMLS:C1839728",
          "icd11.foundation:577712860"
        ],
        "synonyms": [
          "FGF16 non-syndromic syndactyly",
          "fusion of metacarpals 4 and 5",
          "metacarpal 4-5 fusion, X-linked recessive",
          "non-syndromic syndactyly caused by mutation in FGF16",
          "MF4",
          "metacarpal 4-5 fusion",
          "metacarpals 4 and 5 fusion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010669"
    },
    {
      "id": 13330,
      "label": "mesoaxial synostotic syndactyly with phalangeal reduction",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010590",
          "MEDGEN:324459",
          "MESH:C563721",
          "OMIM:609432",
          "Orphanet:157801",
          "SCTID:724170007",
          "UMLS:C1836206"
        ],
        "synonyms": [
          "MSSD",
          "syndactyly type 9",
          "syndactyly, Malik-Percin type",
          "syndactyly Malik-Percin type",
          "syndactyly mesoaxial synostotic with phalangeal reduction",
          "syndactyly, mesoaxial synostotic, with phalangeal reduction",
          "syndactyly, type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012271"
    },
    {
      "id": 17750,
      "label": "syndactyly type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19340
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021201",
          "MEDGEN:1635950",
          "Orphanet:295012",
          "SCTID:763624007",
          "UMLS:C4706525",
          "icd11.foundation:2105806379"
        ],
        "synonyms": [
          "mitten hand",
          "syndactyly, mitten type",
          "unilateral syndactyly of digits 2-5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017460"
    }
  ],
  "roots": [
    {
      "id": 20258,
      "label": "syndactyly"
    }
  ]
}