{
  "id": 9859,
  "label": "tibia, hypoplasia or aplasia of, with polydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008572",
  "properties": {
    "xrefs": [
      "DOID:0111564",
      "GARD:0008309",
      "MEDGEN:348786",
      "MESH:C535564",
      "MESH:C566046",
      "OMIM:188740",
      "Orphanet:3332",
      "Orphanet:988",
      "SCTID:716741008",
      "UMLS:C1861098"
    ],
    "synonyms": [
      "absent tibia-polydactyly syndrome",
      "hypoplastic tibiae-postaxial polydactyly syndrome",
      "tibia, hypoplasia or aplasia of, with polydactyly",
      "THYP",
      "absence of tibia with polydactyly",
      "polydactyly with absent tibia",
      "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia",
      "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}