{
  "id": 13380,
  "label": "Frias syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012324",
  "properties": {
    "xrefs": [
      "GARD:0002384",
      "MEDGEN:400621",
      "MESH:C535639",
      "OMIM:609640",
      "Orphanet:2055",
      "Orphanet:264200",
      "UMLS:C1864825"
    ],
    "synonyms": [
      "14q22-q23 microdeletion syndrome",
      "14q22q23 microdeletion syndrome",
      "Del(14)(q22q23)",
      "Frias syndrome",
      "monosomy 14q22-q23",
      "monosomy 14q22q23",
      "Growth deficiency, Facial anomalies, and brachydactyly",
      "chromosome 14Q22 deletion syndrome"
    ],
    "definition": "A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression."
  },
  "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": 17331,
      "label": "partial deletion of the long arm of chromosome 14",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:444119",
          "Orphanet:262110",
          "UMLS:C2931697"
        ],
        "synonyms": [
          "partial deletion of chromosome 14q",
          "partial deletion of the long arm of chromosome type 14",
          "partial monosomy of chromosome 14q",
          "partial monosomy of the long arm of chromosome 14",
          "14q deletion",
          "14q monosomy",
          "chromosome 14q deletion",
          "deletion 14q",
          "monosomy 14q",
          "partial monosomy 14q"
        ],
        "definition": "Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016912"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 17331,
      "label": "partial deletion of the long arm of chromosome 14"
    }
  ]
}