{
  "id": 19469,
  "label": "FGFR3-related chondrodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019685",
  "properties": {
    "xrefs": [
      "GARD:0019185",
      "MEDGEN:1842866",
      "Orphanet:93420",
      "UMLS:C5681604"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8456,
      "label": "achondroplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4480",
          "GARD:0008173",
          "ICD10CM:Q77.4",
          "MEDGEN:1289",
          "MESH:D000130",
          "MedDRA:10000452",
          "NANDO:1200877",
          "NANDO:2201009",
          "NCIT:C34345",
          "NORD:711",
          "OMIM:100800",
          "Orphanet:15",
          "SCTID:86268005",
          "UMLS:C0001080",
          "icd11.foundation:24224082"
        ],
        "synonyms": [
          "ACH",
          "achondroplasia",
          "achondroplastic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007037"
    },
    {
      "id": 9138,
      "label": "hypochondroplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080041",
          "GARD:0006724",
          "ICD9:756.9",
          "MEDGEN:98376",
          "MESH:C562937",
          "MedDRA:10020967",
          "NANDO:2201010",
          "NCIT:C118697",
          "NORD:1271",
          "OMIM:146000",
          "Orphanet:429",
          "SCTID:205468002",
          "UMLS:C0410529",
          "icd11.foundation:1930265486"
        ],
        "synonyms": [
          "hypochondroplasia",
          "HCH"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007793"
    },
    {
      "id": 13552,
      "label": "camptodactyly-tall stature-scoliosis-hearing loss syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2905,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111160",
          "GARD:0010012",
          "MEDGEN:355844",
          "MESH:C537975",
          "OMIM:610474",
          "Orphanet:85164",
          "UMLS:C1864852"
        ],
        "synonyms": [
          "CATSHL syndrome",
          "CATSHLS",
          "camptodactyly, tall stature, and hearing loss syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012504"
    },
    {
      "id": 15653,
      "label": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111158",
          "GARD:0009443",
          "ICD9:757.39",
          "ICD9:783.40",
          "MEDGEN:393098",
          "OMIM:616482",
          "Orphanet:85165",
          "PMID:10053006",
          "SCTID:699870002",
          "UMLS:C2674173"
        ],
        "synonyms": [
          "SADDAN",
          "SADDAN dysplasia",
          "achondroplasia, severe, with developmental delay and acanthosis nigricans"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014658"
    },
    {
      "id": 17425,
      "label": "thanatophoric dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19469
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13481",
          "GARD:0000085",
          "ICD9:259.4",
          "MEDGEN:21124",
          "MESH:D013796",
          "MedDRA:10049808",
          "NANDO:1200874",
          "NCIT:C85187",
          "Orphanet:2655",
          "SCTID:29352008",
          "UMLS:C0039743",
          "icd11.foundation:1668919215"
        ],
        "synonyms": [
          "FGFR3-related thanatophoric dysplasia",
          "TD",
          "thanatophoric dwarfism",
          "dwarfism thanatophoric"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017042"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}