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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:premature sphenooccipital synchondrosis closure
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Accession:MP:0030446 term browser browse the term
Definition:early closure or ossification of the sphenooccipital synchondrosis relative to age- and gender-matched controls; premature fusion has been associated with midface hypoplasia in animal models and patients with specific forms of syndromic craniosynostosis
Synonyms:exact_synonym: precocious sphenooccipital synchondrosis closure;   premature SOS closure;   premature fusion of sphenooccipital synchondrosis;   premature ossification of sphenooccipital synchondrosis;   premature spheno-occipital synchondrosis closure


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premature sphenooccipital synchondrosis closure term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 IAGP MGI PMID:28123344 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MGI PMID:37345656 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP MGI PMID:18652813 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 17076
    skeleton phenotype 3395
      abnormal skeleton physiology 860
        abnormal bone ossification 521
          premature bone ossification 36
            premature endochondral bone ossification 13
              premature cranial synchondrosis closure 5
                premature sphenooccipital synchondrosis closure 3
Path 2
Term Annotations click to browse term
  mammalian phenotype 17076
    skeleton phenotype 3395
      abnormal skeleton morphology 3202
        abnormal axial skeleton morphology 1792
          abnormal craniofacial bone morphology 1046
            abnormal cranium morphology 1030
              abnormal cranial cartilage morphology 86
                abnormal cranial cartilage development 14
                  abnormal cranial synchondrosis 10
                    premature cranial synchondrosis closure 5
                      premature sphenooccipital synchondrosis closure 3
paths to the root