Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Crouzon syndrome with acanthosis nigricans

Synonyms

CAN

Definitions

(CAN) - Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance.

ID

http://identifiers.org/omim/612247

altLabel

CAN

definition

(CAN) - Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala-391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance.

id

OMIM:612247

notation

OMIM:612247

prefLabel

Crouzon syndrome with acanthosis nigricans

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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http://purl.obolibrary.org/obo/DDO.owl#DDO_0002163 FASTO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0002163 DDO LOOM
http://purl.obolibrary.org/obo/DDO.owl#DDO_0002163 DMTO LOOM
http://purl.bioontology.org/ontology/MESH/C567382 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567382 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/612247 OMIM LOOM
http://purl.obolibrary.org/obo/DERMO_0000625 DERMO LOOM
http://identifiers.org/omim/612247 RETO LOOM
http://identifiers.org/omim/612247 RETO SAME_URI
http://identifiers.org/omim/612247 REXO LOOM
http://identifiers.org/omim/612247 REXO SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/702361006 SNOMEDCT LOOM