{
  "id": 11202,
  "label": "microbrachycephaly-ptosis-cleft lip syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010007",
  "properties": {
    "xrefs": [
      "GARD:0003596",
      "MEDGEN:162914",
      "OMIM:268850",
      "Orphanet:2511",
      "UMLS:C0796142"
    ],
    "synonyms": [
      "Richieri Costa-Guion Almeida-Ramos syndrome",
      "Richieri-COSTA/Guion-Almeida syndrome",
      "microbrachycephaly ptosis cleft lip",
      "sao Paulo MCA/Mr syndrome",
      "short stature, intellectual disability, eye anomalies, and cleft Lip/palate",
      "short stature, mental retardation, eye anomalies, and cleft Lip/palate"
    ],
    "definition": "Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}