{
  "id": 20261,
  "label": "faciodigitogenital syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021005",
  "properties": {
    "xrefs": [
      "DOID:0111824",
      "GARD:0004775",
      "MedDRA:10067148",
      "Orphanet:915"
    ],
    "synonyms": [
      "Aarskog syndrome",
      "Aarskog-Scott syndrome",
      "faciogenital dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome."
  },
  "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"
    }
  ],
  "children": [
    {
      "id": 8449,
      "label": "autosomal dominant Aarskog syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        20261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111825",
          "GARD:0015029",
          "MEDGEN:460570",
          "NORD:702",
          "OMIM:100050",
          "UMLS:C3149220"
        ],
        "synonyms": [
          "Aarskog Syndrome",
          "Aarskog syndrome",
          "Aarskog syndrome, autosomal dominant",
          "Aarskog-Scott syndrome",
          "faciogenital dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007030"
    },
    {
      "id": 10452,
      "label": "autosomal recessive faciodigitogenital syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        16089,
        20261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005124",
          "MEDGEN:341637",
          "OMIM:227330",
          "Orphanet:1974",
          "UMLS:C1856871"
        ],
        "synonyms": [
          "Aarskog-like syndrome",
          "Teebi-Naguib-Alawadi syndrome",
          "facio-digito-genital syndrome, Kuwait type",
          "Kuwait type faciodigitogenital syndrome",
          "faciodigitogenital syndrome, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009209"
    },
    {
      "id": 11742,
      "label": "Aarskog-Scott syndrome, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        4165,
        20261
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6683",
          "GARD:0024738",
          "ICD9:759.89",
          "MEDGEN:61234",
          "MESH:C535331",
          "MedDRA:10067148",
          "NCIT:C129720",
          "OMIM:305400",
          "SCTID:14921002",
          "UMLS:C0175701"
        ],
        "synonyms": [
          "AAS",
          "Aarskog disease",
          "Aarskog syndrome",
          "Aarskog-Scott syndrome",
          "Aarskog-like syndrome",
          "FGD",
          "FGDY",
          "Scott Aarskog syndrome",
          "facio-digito-genital dysplasia",
          "faciodigitogenital syndrome",
          "faciodigitogenital syndrome, recessive",
          "faciogenital dysplasia",
          "Aarskog syndrome, X-linked",
          "Aarskog-Scott syndrome, X-linked",
          "Aarskog-Scott syndrome, X-linked recessive",
          "mental retardation, X-linked syndromic 16, X-linked recessive",
          "MRXS16, included",
          "mental retardation, X-linked, syndromic 16",
          "mental retardation, X-linked, syndromic 16, included",
          "Aarskog Scott syndrome",
          "faciogenital dysplasia with attention Deficit-hyperactivity disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010589"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}