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Cole-Carpenter syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Cole-Carpenter syndrome
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Accession:EFO:MONDO:0016085 term browser browse the term
Definition:An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
Synonyms:exact_synonym: DOID:0060438;   NCIT:C130985;   Orphanet:2050;   bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome;   http://identifiers.org/medgen/350614;   http://identifiers.org/mesh/C535963;   http://linkedlifedata.com/resource/umls/id/C1862178;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1458793358;   https://omim.org/phenotypicSeries/PS112240
 alt_id: MONDO:0016085
 xref: DOID:0060438;   GARD:1425;   MEDGEN:350614;   MESH:C535963;   MIM:PS112240;   NCI:C130985;   ORDO:2050;   UMLS:C1862178;   icd11.foundation:1458793358

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            Cole-Carpenter syndrome 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              multiple congenital anomalies/dysmorphic syndrome 0
                multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0
                  Cole-Carpenter syndrome 0
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