Hearing Impairment Ontology

Last uploaded: October 31, 2019
Preferred Name

Crouzon Syndrome

Synonyms
Definitions

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. A characteristic appearance resulting from defective ossification of craniofacial bones. A characteristic appearance resulting from defective ossification of craniofacial bones.

ID

http://purl.obolibrary.org/obo/HIO_0000193

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. A characteristic appearance resulting from defective ossification of craniofacial bones.

description

A characteristic appearance resulting from defective ossification of craniofacial bones.

created_by

Jade Hotchkiss

creation_date

2019-06-14T10:39:55.08973Z

database cross reference

HP:0004439

definition source

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

existence in other ontologies

Sufficient

hasExactSynonym

Craniofacial Dysostosis

label

Crouzon Syndrome

prefixIRI

HIO:0000193

prefLabel

Crouzon Syndrome

source

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

treated with

http://purl.obolibrary.org/obo/HIO_0000120

subClassOf

http://purl.obolibrary.org/obo/HIO_0000049

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2339 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 DOVES LOOM
http://www.gamuts.net/entity#Crouzon_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2339 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010273 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Crouzon_Syndrome PEDTERM LOOM
http://identifiers.org/omim/123500 REXO LOOM
http://identifiers.org/omim/123500 GEXO LOOM
http://identifiers.org/omim/123500 RETO LOOM
http://www.orpha.net/ORDO/Orphanet_207 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2339 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2339 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2339 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PG04. RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/28861008 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17907 DERMLEX LOOM
http://purl.bioontology.org/ontology/OMIM/123500 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C05 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_123500 CCO LOOM
http://purl.org/skeletome/bonedysplasia#Crouzon_syndrome BDO LOOM