Search Ontology:
Human Disease

Beare-Stevenson cutis gyrata syndrome

Term ID
DOID:0050660
Synonyms
Definition
A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome
References
Ontology
Human Disease   ( DOID:0050660 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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