{
  "id": 9616,
  "label": "Hutchinson-Gilford progeria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008310",
  "properties": {
    "xrefs": [
      "DOID:3911",
      "GARD:0007467",
      "ICD9:259.8",
      "MEDGEN:46123",
      "MedDRA:10036794",
      "NANDO:1201007",
      "NANDO:2200833",
      "NCIT:C34951",
      "NORD:1257",
      "OMIM:176670",
      "Orphanet:740",
      "SCTID:238870004",
      "UMLS:C0033300"
    ],
    "synonyms": [
      "progeria",
      "HGPS",
      "Hutchinson-Gilford disease",
      "Hutchinson-Gilford progeria",
      "Hutchinson-Gilford progeria syndrome",
      "premature senility syndrome",
      "Hutchinson Gilford progeria syndrome",
      "progeria syndrome, childhood-onset"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16199,
      "label": "progeroid syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19146,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081332",
          "GARD:0019906",
          "MEDGEN:1864204",
          "MESH:D011371",
          "NANDO:2100221",
          "OMIMPS:176670",
          "Orphanet:139033",
          "UMLS:C5848146",
          "icd11.foundation:926151882"
        ],
        "synonyms": [
          "progeria",
          "progeria or progeroid syndrome"
        ],
        "definition": "A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015333"
    },
    {
      "id": 19478,
      "label": "primary osteolysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019204",
          "MEDGEN:1843089",
          "Orphanet:93449",
          "UMLS:C5559806",
          "icd11.foundation:285636466"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0019707"
    },
    {
      "id": 20345,
      "label": "laminopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019444",
          "MEDGEN:1716073",
          "MESH:D000083083",
          "Orphanet:98301",
          "UMLS:C5392094"
        ],
        "definition": "A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina."
      },
      "child_count": 14,
      "reference_id": "MONDO:0021106"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16199,
      "label": "progeroid syndrome"
    },
    {
      "id": 19478,
      "label": "primary osteolysis"
    },
    {
      "id": 20345,
      "label": "laminopathy"
    }
  ]
}