{
  "id": 19689,
  "label": "Robinow syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019978",
  "properties": {
    "xrefs": [
      "DOID:0060254",
      "GARD:0000312",
      "MEDGEN:78535",
      "NCIT:C85048",
      "NORD:1673",
      "OMIMPS:268310",
      "Orphanet:97360",
      "UMLS:C0265205",
      "icd11.foundation:1010745722"
    ],
    "synonyms": [
      "Robinow dwarfism",
      "Robinow-Silverman-Smith syndrome",
      "acral dysostosis with facial and genital abnormalities",
      "fetal face syndrome",
      "foetal face syndrome",
      "mesomelic dwarfism-small genitalia syndrome",
      "Covesdem syndrome (formerly)",
      "costovertebral segmentation defect with mesomelia (formerly)"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "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": 9688,
      "label": "autosomal dominant Robinow syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        19689
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016620",
          "ICD9:759.89",
          "MEDGEN:1675001",
          "Orphanet:3107",
          "SCTID:76520005",
          "UMLS:C5200540",
          "icd11.foundation:807338758"
        ],
        "synonyms": [
          "Robinow syndrome, autosomal dominant",
          "Robinow syndrome, autosomal dominant type",
          "autosomal dominant Robinow syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008389"
    },
    {
      "id": 11194,
      "label": "autosomal recessive Robinow syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19689
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060764",
          "GARD:0016568",
          "MEDGEN:1770070",
          "MESH:C535863",
          "OMIM:268310",
          "Orphanet:1507",
          "UMLS:C5399974",
          "icd11.foundation:793292660"
        ],
        "synonyms": [
          "COVESDEM syndrome",
          "RRS",
          "Robinow syndrome, autosomal recessive",
          "costovertebral segmentation defect-mesomelia syndrome",
          "Covesdem syndrome",
          "Covesdem syndrome, formerly",
          "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly",
          "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals",
          "costovertebral segmentation defect with mesomelia",
          "costovertebral segmentation defect with mesomelia, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009999"
    },
    {
      "id": 22457,
      "label": "robinow syndrome, autosomal recessive 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19689
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060974",
          "GARD:0025750",
          "MEDGEN:1676687",
          "OMIM:618529",
          "UMLS:C5193143"
        ],
        "synonyms": [
          "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2",
          "RRS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032800"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}