Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

Craniofacial dysostosis

Synonyms

Crouzon syndrome

Definitions

A characteristic appearance resulting from defective ossification of craniofacial bones. Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.

ID

http://purl.obolibrary.org/obo/HP_0004439

comment

Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.

creation_date

2008-03-18T09:58:00Z

creator

https://orcid.org/0000-0002-0736-9199

database_cross_reference

SNOMEDCT_US:28861008

UMLS:C0010273

MSH:D003394

definition

A characteristic appearance resulting from defective ossification of craniofacial bones.

has_exact_synonym

Crouzon syndrome

id

HP:0004439

label

Craniofacial dysostosis

notation

HP:0004439

preferred label

Craniofacial dysostosis

prefLabel

Craniofacial dysostosis

subClassOf

http://purl.obolibrary.org/obo/HP_0000271

http://purl.obolibrary.org/obo/HP_0000929

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