craniosynostosis 7
http://purl.obolibrary.org/obo/MONDO_0044315
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). [ OMIM:617439 ]
Term info
- OMIM:617439 (MONDO:equivalentTo)
- UMLS:C4479496 (OMIM:617439)
https://github.com/monarch-initiative/mondo/issues/4882, https://github.com/monarch-initiative/mondo/issues/4521
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).
https://omim.org/entry/617439, http://linkedlifedata.com/resource/umls/id/C4479496
http://purl.obolibrary.org/obo/MONDO_0015469
craniosynostosis 7, susceptibility to, craniosynostosis 7
Crs7, digenic, CRS7, craniosynostosis 7, digenic
MONDO:0044315