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Metadata
ID DOID:0111161
Name Crouzon syndrome-acanthosis nigricans syndrome
Definition A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.
https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans, https://www.ncbi.nlm.nih.gov/pubmed/2650599, https://www.ncbi.nlm.nih.gov/pubmed/7493034
Xrefs

OMIM:612247

ORDO:93262

Synonyms

CAN [EXACT]

Crouzon-dermoskeletal syndrome [EXACT]

Crouzonodermoskeletal syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a bone disease

is_a autosomal dominant disease

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