{
  "id": 13893,
  "label": "Fontaine progeroid syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012853",
  "properties": {
    "xrefs": [
      "GARD:0004497",
      "ICD9:759.89",
      "MEDGEN:394125",
      "MESH:C537290",
      "NORD:1201",
      "OMIM:233500",
      "OMIM:612289",
      "Orphanet:2095",
      "Orphanet:2963",
      "Orphanet:697101",
      "SCTID:205800003",
      "UMLS:C2676780"
    ],
    "synonyms": [
      "FPS",
      "Fontaine progeroid syndrome",
      "GCM syndrome",
      "GCMS",
      "Gorlin Chaudhry Moss syndrome",
      "Gorlin-Chaudhry-Moss Syndrome",
      "Gorlin-Chaudhry-Moss syndrome",
      "Petty syndrome",
      "Petty-Laxova-Wiedemann syndrome",
      "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
      "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora",
      "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome",
      "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome",
      "dental and eye anomalies, patent ductus arteriosus, and normal intelligence",
      "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome",
      "progeroid syndrome Petty type",
      "progeroid syndrome congenital Petty type",
      "progeroid syndrome, Petty type",
      "progeroid syndrome, congenital, Petty type",
      "Petty Laxova Wiedemann syndrome",
      "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16199,
      "label": "progeroid syndrome"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}