{
  "id": 21245,
  "label": "mesomelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0023599",
  "properties": {
    "xrefs": [
      "MEDGEN:593147",
      "NCIT:C121156",
      "SCTID:205473008",
      "UMLS:C0410536"
    ],
    "synonyms": [
      "mesomelic dysplasia",
      "mesomelic dysplasias",
      "Mesomelic Dysplasia",
      "Mesomelic dwarf",
      "Mesomelic dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 9305,
      "label": "mesomelic dysplasia, Kantaputra type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003074",
          "MEDGEN:331880",
          "MESH:C535547",
          "OMIM:156232",
          "Orphanet:1836",
          "SCTID:719397009",
          "UMLS:C1835009"
        ],
        "synonyms": [
          "Kantaputra mesomelic dysplasia",
          "MDK",
          "mesomelic dysplasia, Kantaputra type",
          "mesomelic dysplasia, Thai type",
          "MMDK",
          "Mdk",
          "mesomelic dysplasia Kantaputra type",
          "mesomelic dysplasia Thai type",
          "mesomelic dysplasia with ankle carpal and tarsal synostosis",
          "mesomelic dysplasia with ankle, carpal, and tarsal synostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature."
      },
      "child_count": 1,
      "reference_id": "MONDO:0007977"
    },
    {
      "id": 9416,
      "label": "mesomelic dwarfism, Nievergelt type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003554",
          "MEDGEN:98478",
          "MESH:C536120",
          "OMIM:163400",
          "Orphanet:2633",
          "SCTID:33979003",
          "UMLS:C0432231",
          "icd11.foundation:2034257092"
        ],
        "synonyms": [
          "Nievergelt syndrome",
          "mesomelic dwarfism Nievergelt type",
          "mesomelic dysplasia, Nievergelt type",
          "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008098"
    },
    {
      "id": 9902,
      "label": "mesomelic dwarfism, Reinhardt-Pfeiffer type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003555",
          "MEDGEN:395935",
          "MESH:C537349",
          "OMIM:191400",
          "Orphanet:2634",
          "SCTID:715472000",
          "UMLS:C1860616",
          "icd11.foundation:1393171517"
        ],
        "synonyms": [
          "Reinhardt-Pfeiffer mesomelic dysplasia",
          "Reinhardt-Pfeiffer syndrome",
          "hypoplasia of ulna and fibula",
          "mesomelic dwarfism of hypoplastic ulna and fibula type",
          "mesomelic dysplasia Reinhardt-Pfeiffer type",
          "ulna and fibula, hypoplasia OF"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008618"
    },
    {
      "id": 9904,
      "label": "upper limb mesomelic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002408",
          "MEDGEN:1811806",
          "MESH:C538069",
          "OMIM:191440",
          "Orphanet:2497",
          "UMLS:C5574958",
          "icd11.foundation:2013121778"
        ],
        "synonyms": [
          "Fryns-Hofkens-Fabry syndrome",
          "upper limb mesomelic dysplasia",
          "Fryns Hofkens Fabry syndrome",
          "ulna hypoplasia",
          "ulnar hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008620"
    },
    {
      "id": 10808,
      "label": "Langer mesomelic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003553",
          "ICD9:756.59",
          "MEDGEN:96585",
          "MESH:C537267",
          "NCIT:C126876",
          "OMIM:249700",
          "Orphanet:2632",
          "SCTID:38494008",
          "UMLS:C0432230"
        ],
        "synonyms": [
          "Langer mesomelic dysplasia",
          "Langer syndrome",
          "Langer type mesomelic dysplasia",
          "langer mesomelic dysplasia, pseudoautosomal recessive",
          "mesomelic dwarfism, Langer type",
          "LMD",
          "dyschondrosteosis, homozygous",
          "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type",
          "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009588"
    },
    {
      "id": 12628,
      "label": "mesomelic dysplasia, Savarirayan type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21245
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010584",
          "MEDGEN:343129",
          "MESH:C565349",
          "OMIM:605274",
          "Orphanet:85170",
          "SCTID:715652002",
          "UMLS:C1854470",
          "icd11.foundation:1627637820"
        ],
        "synonyms": [
          "mesomelic dysplasia with absent fibulas and triangular tibias",
          "mesomelic dysplasia, Savarirayan type",
          "triangular tibia-fibular aplasia syndrome",
          "mesomelic dysplasia Savarirayan type",
          "triangular tibia and fibular aplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011530"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}