{
  "id": 12257,
  "label": "Curry-Jones syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011134",
  "properties": {
    "xrefs": [
      "GARD:0005584",
      "MEDGEN:167083",
      "MESH:C536735",
      "OMIM:601707",
      "Orphanet:1553",
      "SCTID:720819006",
      "UMLS:C0795915"
    ],
    "synonyms": [
      "Curry-Jones syndrome, somatic mosaic",
      "corpus callosum agenesis-polysyndactyly syndrome",
      "curry-Jones syndrome",
      "CRJS",
      "corpus callosum agenesis polysyndactyly",
      "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development",
      "curry Jones syndrome",
      "curry-JONES syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    },
    {
      "id": 29224,
      "label": "mosaic SMO syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027231"
        ],
        "definition": "A somatic mosaic condition caused by a postzygotic mutation (c.1234 C>T p.Leu412Phe) in the SMO gene. Two overlapping clinical syndromes associated with this variant in SMO have been reported; Curry-Jones Syndrome (MIM:601707) and Happle-Tinschert Syndrome. The syndrome is characterized by cutaneous and skeletal manifestations such as linear hypo‐ or hyperpigmented lesions, basaloid follicular hamartomas, palmoplantar pitting, atrophoderma, hypertrichosis, polydactyly or syndactyly, rib anomalies (rudimentary ribs), and limb‐length anomalies. Craniofacial and dental abnormalities such as dysmorphic facies, macrocephaly, craniosynostosis, jaw tumors (ameloblastoma) have also been reported. Additional abnormalities impacting the gastrointestinal, cerebral, ophthalmic, and gonadal organs should also be considered. Some of these features include anal anomaly, colonic adenocarcinoma, severe constipation, myelofibrosis and smooth muscle hamartomas, malrotation, medulloblastoma, cerebral malformations, developmental delay, cataract, microphthalmia, coloboma, glaucoma, and cryptorchidism."
      },
      "child_count": 2,
      "reference_id": "MONDO:1030005"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    },
    {
      "id": 29224,
      "label": "mosaic SMO syndrome"
    }
  ]
}