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Metadata
ID DOID:0050660
Name Beare-Stevenson cutis gyrata syndrome
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
Xrefs

GARD:332

OMIM:123790

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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