{
  "id": 8864,
  "label": "3-M syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007477",
  "properties": {
    "xrefs": [
      "DOID:0060241",
      "GARD:0005667",
      "ICD9:756.59",
      "MEDGEN:336440",
      "MESH:C535314",
      "NORD:1767",
      "OMIMPS:273750",
      "Orphanet:2616",
      "SCTID:702342007",
      "UMLS:C1848862"
    ],
    "synonyms": [
      "3-M syndrome",
      "Three M Syndrome",
      "Yakut short stature syndrome",
      "three M syndrome",
      "3M1",
      "three M syndrome 1",
      "3-MSBN",
      "3M syndrome",
      "dwarfism with tall vertebrae",
      "gloomy face syndrome Yakut short stature syndrome, included",
      "three-M slender-boned nanism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence."
  },
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [
    {
      "id": 11302,
      "label": "3M syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8864,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015239",
          "MEDGEN:395592",
          "OMIM:273750",
          "UMLS:C2678312"
        ],
        "synonyms": [
          "3-M syndrome 1",
          "3-M syndrome caused by mutation in CUL7",
          "3-M syndrome caused by mutation in Cul7",
          "CUL7 3-M syndrome",
          "Cul7 3-M syndrome",
          "three M syndrome 1",
          "three M syndrome type 1",
          "3M syndrome",
          "3M1",
          "Dolichospondylic dysplasia",
          "Le Merrer syndrome",
          "Yakut short stature syndrome",
          "gloomy face syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010117"
    },
    {
      "id": 14077,
      "label": "3M syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8864,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015591",
          "MEDGEN:414168",
          "MESH:C567862",
          "OMIM:612921",
          "UMLS:C2752041"
        ],
        "synonyms": [
          "3-M syndrome 2",
          "3-M syndrome caused by mutation in OBSL1",
          "3M syndrome 2",
          "OBSL1 3-M syndrome",
          "three M syndrome 2",
          "three M syndrome type 2",
          "3M2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013039"
    },
    {
      "id": 14652,
      "label": "3M syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8864,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015772",
          "MEDGEN:481776",
          "OMIM:614205",
          "UMLS:C3280146"
        ],
        "synonyms": [
          "3-M syndrome 3",
          "3-M syndrome caused by mutation in CCDC8",
          "3M syndrome 3",
          "CCDC8 3-M syndrome",
          "three M syndrome 3",
          "three M syndrome type 3",
          "3M3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013627"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}