{
  "id": 17069,
  "label": "split hand-foot malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016576",
  "properties": {
    "xrefs": [
      "DOID:0090020",
      "GARD:0006319",
      "MEDGEN:78566",
      "NCIT:C75000",
      "NORD:1731",
      "OMIMPS:183600",
      "Orphanet:2440",
      "SCTID:81208006",
      "UMLS:C0265554"
    ],
    "synonyms": [
      "FEWER digits",
      "SHFM",
      "Split Hand/Split Foot Malformation",
      "ectrodactyly",
      "split hand foot malformation",
      "split-hand/foot malformation",
      "isolated split hand-split foot malformation",
      "split hand-split foot malformation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9756,
      "label": "split hand-foot malformation 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17069
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:46",
          "DOID:0090021",
          "GARD:0007685",
          "MEDGEN:419314",
          "NCIT:C75045",
          "OMIM:183600",
          "UMLS:C2931019"
        ],
        "synonyms": [
          "SHFD1",
          "SHFM1",
          "split hand-foot malformation type 1",
          "split hand/foot malformation 1",
          "split-hand/foot malformation type 1",
          "ectrodactyly",
          "split-hand deformity",
          "split-hand/foot deformity 1",
          "split-hand/foot malformation 1",
          "split-hand/foot malformation 1 with or without deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Split-hand/foot malformation mapped to chromosome 7q21.3"
      },
      "child_count": 0,
      "reference_id": "MONDO:0008464"
    },
    {
      "id": 10401,
      "label": "split hand-foot malformation 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17069
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090026",
          "GARD:0015166",
          "MEDGEN:440845",
          "MESH:C567616",
          "OMIM:225300",
          "UMLS:C2749665"
        ],
        "synonyms": [
          "SHFM6",
          "WNT10B split hand-foot malformation",
          "split hand-foot malformation caused by mutation in WNT10B",
          "split hand-foot malformation type 6",
          "split-hand/foot malformation type 6",
          "ectrodactyly, autosomal recessive",
          "split-hand/foot malformation 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009157"
    },
    {
      "id": 10749,
      "label": "split hand-foot malformation 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16088,
        17069,
        17376
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090025",
          "GARD:0003252",
          "MEDGEN:325070",
          "MESH:C565437",
          "NCIT:C75121",
          "OMIM:246560",
          "Orphanet:1307",
          "SCTID:722429003",
          "UMLS:C1838652"
        ],
        "synonyms": [
          "10q24 microduplication syndrome",
          "Buttiens-Fryns syndrome",
          "SHFM3",
          "chromosome 10q24 duplication syndrome",
          "split hand-foot malformation 3",
          "split hand-foot malformation type 3",
          "split-hand/foot malformation 3, gene duplication syndrome",
          "split-hand/foot malformation type 3",
          "Buttiens Fryns syndrome",
          "Shsf3",
          "chromosome 10Q24 Duplication syndrome",
          "distal limb deficiencies-micrognathia syndrome",
          "limb deficiencies distal with micrognathia",
          "limb deficiencies, distal, with micrognathia",
          "split-hand/foot malformation 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009525"
    },
    {
      "id": 11876,
      "label": "split hand-foot malformation 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17069
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090027",
          "GARD:0015308",
          "MEDGEN:326848",
          "MESH:C564056",
          "OMIM:313350",
          "UMLS:C1839258"
        ],
        "synonyms": [
          "SHFM2",
          "split hand-foot malformation type 2",
          "split hand/foot malformation 2",
          "SHFD2",
          "SHSF2",
          "split hand foot anomaly - X-linked",
          "split hand foot deformity 2",
          "split hand/foot malformation X-linked",
          "split-hand/foot deformity 2",
          "split-hand/foot malformation 2",
          "split-hand/split-foot anomaly, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010736"
    },
    {
      "id": 12633,
      "label": "split hand-foot malformation 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17069,
        29233
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090023",
          "GARD:0015378",
          "MEDGEN:343120",
          "MESH:C565344",
          "OMIM:605289",
          "UMLS:C1854442"
        ],
        "synonyms": [
          "SHFM4",
          "TP63 split hand-foot malformation",
          "split hand-foot malformation caused by mutation in TP63",
          "split hand-foot malformation type 4",
          "split-hand/foot malformation type 4",
          "split-hand/foot malformation 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011535"
    },
    {
      "id": 12796,
      "label": "split hand-foot malformation 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17069
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090022",
          "GARD:0015398",
          "MEDGEN:338277",
          "MESH:C564674",
          "NCIT:C75002",
          "OMIM:606708",
          "UMLS:C1847622"
        ],
        "synonyms": [
          "SHFM5",
          "split hand-foot malformation type 5",
          "split-hand/foot malformation type 5",
          "split-hand/foot malformation 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Split-hand/foot malformation mapped to chromosome 2q31."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011709"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    }
  ]
}