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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:craniosynostosis
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Accession:EFO:MONDO:0015469 term browser browse the term
Definition:Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Synonyms:exact_synonym: DOID:2340;   NCIT:C84655;   Orphanet:1531;   craniosynostosis syndrome;   http://identifiers.org/medgen/1163;   http://identifiers.org/mesh/D003398;   http://linkedlifedata.com/resource/umls/id/C0010278;   http://purl.bioontology.org/ontology/ICD10CM/Q75.0;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/458033798;   https://omim.org/phenotypicSeries/PS123100;   premature closure of cranial sutures
 synonym: http://identifiers.org/meddra/10048907;   http://identifiers.org/meddra/10049889
 related_synonym: CSO
 alt_id: MONDO:0015469
 xref: DOID:2340;   GARD:6209;   ICD10CM:Q75.0;   MEDGEN:1163;   MESH:D003398;   MIM:PS123100;   MedDRA:10048907;   MedDRA:10049889;   NANDO:2100227;   NCI:C84655;   ORDO:1531;   UMLS:C0010278;   icd11.foundation:458033798


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            craniosynostosis 0
              craniosynostosis syndrome, autosomal recessive + 0
              craniosynostosis with ectopia lentis 0
              glass-chapman-hockley syndrome 0
              isolated craniosynostosis + 0
              syndromic craniosynostosis + 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              bone disease 0
                bone development disease 0
                  dysostosis 0
                    craniosynostosis 0
                      craniosynostosis syndrome, autosomal recessive + 0
                      craniosynostosis with ectopia lentis 0
                      glass-chapman-hockley syndrome 0
                      isolated craniosynostosis + 0
                      syndromic craniosynostosis + 0
paths to the root