{
  "id": 19181,
  "label": "Seckel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019342",
  "properties": {
    "xrefs": [
      "DOID:0050569",
      "GARD:0008562",
      "ICD9:759.89",
      "MEDGEN:78534",
      "NCIT:C125488",
      "NORD:1701",
      "OMIMPS:210600",
      "Orphanet:808",
      "SCTID:57917004",
      "UMLS:C0265202",
      "icd11.foundation:952199295"
    ],
    "synonyms": [
      "SCKL",
      "Seckel-type Dwarfism",
      "bird-headed dwarfism",
      "nanocephalic Dwarfism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"bird-headed\" facial appearance."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "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"
    }
  ],
  "children": [
    {
      "id": 10134,
      "label": "Seckel syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070007",
          "GARD:0015143",
          "MEDGEN:1637056",
          "OMIM:210600",
          "UMLS:C4551474"
        ],
        "synonyms": [
          "ATR Seckel syndrome",
          "SCKL1",
          "Seckel syndrome 1",
          "Seckel syndrome 3",
          "Seckel syndrome caused by mutation in ATR",
          "Seckel syndrome type 1",
          "Bird-headed dwarfism",
          "Sckl",
          "Seckel-type dwarfism",
          "microcephalic primordial dwarfism 1",
          "nanocephalic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008869"
    },
    {
      "id": 12033,
      "label": "intrauterine growth retardation with increased mitomycin c sensitivity",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005593",
          "MEDGEN:419040",
          "MESH:C536744",
          "OMIM:600546",
          "UMLS:C2931307"
        ],
        "synonyms": [
          "intrauterine growth retardation with increased mitomycin c sensitivity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010900"
    },
    {
      "id": 12802,
      "label": "Seckel syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070013",
          "GARD:0015399",
          "MEDGEN:338264",
          "MESH:C537534",
          "OMIM:606744",
          "UMLS:C1847572"
        ],
        "synonyms": [
          "RBBP8 Seckel syndrome",
          "SCKL2",
          "Seckel syndrome 2",
          "Seckel syndrome caused by mutation in RBBP8",
          "Seckel syndrome type 2",
          "Seckel-type dwarfism 2",
          "microcephalic primordial dwarfism 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011715"
    },
    {
      "id": 14391,
      "label": "Seckel syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24450
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070010",
          "GARD:0015687",
          "MEDGEN:854819",
          "OMIM:613676",
          "UMLS:C3888212"
        ],
        "synonyms": [
          "CENPJ Seckel syndrome",
          "SCKL4",
          "Seckel syndrome 4",
          "Seckel syndrome caused by mutation in CENPJ",
          "Seckel syndrome type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013358"
    },
    {
      "id": 14475,
      "label": "Seckel syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070012",
          "GARD:0015719",
          "MEDGEN:462537",
          "OMIM:613823",
          "UMLS:C3151187"
        ],
        "synonyms": [
          "CEP152 Seckel syndrome",
          "SCKL5",
          "Seckel syndrome 5",
          "Seckel syndrome caused by mutation in CEP152",
          "Seckel syndrome type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013443"
    },
    {
      "id": 14883,
      "label": "Seckel syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070006",
          "GARD:0024958",
          "MEDGEN:766496",
          "OMIM:614728",
          "UMLS:C3553582"
        ],
        "synonyms": [
          "CEP63 Seckel syndrome",
          "SCKL6",
          "Seckel syndrome 6",
          "Seckel syndrome caused by mutation in CEP63",
          "Seckel syndrome type 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013871"
    },
    {
      "id": 14934,
      "label": "Seckel syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070011",
          "GARD:0017469",
          "MEDGEN:766784",
          "OMIM:614851",
          "Orphanet:319675",
          "UMLS:C3553870"
        ],
        "synonyms": [
          "NIN Seckel syndrome",
          "SCKL7",
          "Seckel syndrome 7",
          "Seckel syndrome caused by mutation in NIN",
          "Seckel syndrome type 7",
          "microcephalic primordial dwarfism, Dauber type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013922"
    },
    {
      "id": 15352,
      "label": "Seckel syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070009",
          "GARD:0016013",
          "MEDGEN:856014",
          "OMIM:615807",
          "UMLS:C3891452"
        ],
        "synonyms": [
          "DNA2 Seckel syndrome",
          "SCKL8",
          "Seckel syndrome 8",
          "Seckel syndrome caused by mutation in DNA2",
          "Seckel syndrome type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014350"
    },
    {
      "id": 15472,
      "label": "microcephaly 13, primary, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17129,
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070283",
          "GARD:0016054",
          "MEDGEN:863517",
          "OMIM:616051",
          "UMLS:C4015080"
        ],
        "synonyms": [
          "CENPE autosomal recessive primary microcephaly",
          "autosomal recessive primary microcephaly caused by mutation in CENPE",
          "microcephaly 13, primary, autosomal recessive",
          "MCPH13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014473"
    },
    {
      "id": 15756,
      "label": "Seckel syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070005",
          "GARD:0016158",
          "MEDGEN:907155",
          "OMIM:616777",
          "UMLS:C4225212"
        ],
        "synonyms": [
          "SCKL9",
          "Seckel syndrome 9",
          "Seckel syndrome caused by mutation in TRAIP",
          "Seckel syndrome type 9",
          "TRAIP Seckel syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014767"
    },
    {
      "id": 15967,
      "label": "Seckel syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070008",
          "GARD:0018484",
          "MEDGEN:934614",
          "OMIM:617253",
          "UMLS:C4310647"
        ],
        "synonyms": [
          "NSMCE2 Seckel syndrome",
          "SCKL10",
          "Seckel syndrome 10",
          "Seckel syndrome caused by mutation in NSMCE2",
          "Seckel syndrome type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014991"
    },
    {
      "id": 25931,
      "label": "Seckel syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027009",
          "MEDGEN:1855399",
          "OMIM:620767",
          "UMLS:C5935595"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958328"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}