{
  "id": 11796,
  "label": "Melnick-Needles syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010650",
  "properties": {
    "xrefs": [
      "DOID:0111788",
      "GARD:0007011",
      "ICD9:756.59",
      "MEDGEN:6292",
      "MedDRA:10060908",
      "NORD:1430",
      "OMIM:309350",
      "Orphanet:2484",
      "SCTID:13449007",
      "UMLS:C0025237"
    ],
    "synonyms": [
      "Melnick Needles Syndrome",
      "Melnick-Needles osteodysplasty",
      "Melnick-Needles syndrome",
      "Melnick-Needles syndrome, X-linked dominant",
      "MELNICK-NEEDLES syndrome",
      "MNS",
      "osteodysplasty of Melnick and Needles"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 18361,
      "label": "otopalatodigital syndrome spectrum disorder"
    }
  ]
}