{
  "id": 16621,
  "label": "frontometaphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015942",
  "properties": {
    "xrefs": [
      "DOID:0111785",
      "GARD:0000826",
      "ICD9:759.89",
      "MEDGEN:82703",
      "MESH:C538064",
      "OMIMPS:305620",
      "Orphanet:1826",
      "SCTID:62803002",
      "UMLS:C0265293",
      "icd11.foundation:1767187670"
    ],
    "synonyms": [
      "frontometaphyseal dysplasia",
      "FMD"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18361,
      "label": "otopalatodigital syndrome spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111782",
          "GARD:0021570",
          "MEDGEN:411701",
          "Orphanet:364541",
          "UMLS:C2748918"
        ],
        "synonyms": [
          "OPD spectrum disorder",
          "OPSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018233"
    }
  ],
  "children": [
    {
      "id": 15914,
      "label": "frontometaphyseal dysplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16621
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111787",
          "GARD:0016199",
          "MEDGEN:934664",
          "OMIM:617137",
          "UMLS:C4310697"
        ],
        "synonyms": [
          "FMD2",
          "Frontometaphyseal dysplasia 2",
          "Frontometaphyseal dysplasia type 2",
          "MAP3K7 frontometaphyseal dysplasia",
          "frontometaphyseal dysplasia 2; FMD2",
          "frontometaphyseal dysplasia caused by mutation in MAP3K7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014935"
    },
    {
      "id": 21495,
      "label": "frontometaphyseal dysplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16621
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111786",
          "GARD:0015293",
          "MEDGEN:923943",
          "OMIM:305620",
          "UMLS:C4281559"
        ],
        "synonyms": [
          "FLNA frontometaphyseal dysplasia",
          "frontometaphyseal dysplasia 1, X-linked recessive",
          "frontometaphyseal dysplasia caused by mutation in FLNA",
          "FMD1",
          "FRONTOMETAPHYSEAL dysplasia 1",
          "Fmd"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024550"
    }
  ],
  "roots": [
    {
      "id": 18361,
      "label": "otopalatodigital syndrome spectrum disorder"
    }
  ]
}