{
  "id": 12633,
  "label": "split hand-foot malformation 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011535",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17069,
      "label": "split hand-foot malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016576"
    },
    {
      "id": 29233,
      "label": "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028141"
        ],
        "definition": "Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting."
      },
      "child_count": 10,
      "reference_id": "MONDO:1040001"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17069,
      "label": "split hand-foot malformation"
    },
    {
      "id": 29233,
      "label": "TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations"
    }
  ]
}