Preferred Name

craniofacial dysostosis
Synonyms

Crouzon's disease

Greig's syndrome

Definitions

autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.

ID

http://purl.bioontology.org/ontology/CSP/0725-9662

altLabel

Crouzon's disease

Greig's syndrome

cui

C0010273

C0265306

definition

autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.

DID

0725-9662

Inverse of RB

http://purl.bioontology.org/ontology/CSP/0725-7823

http://purl.bioontology.org/ontology/CSP/1254-7727

Inverse of RO

http://purl.bioontology.org/ontology/CSP/1254-7792

notation

0725-9662

prefLabel

craniofacial dysostosis

tui

T047

T019

subClassOf

http://purl.bioontology.org/ontology/CSP/0725-7823

http://purl.bioontology.org/ontology/CSP/1254-7727

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/32985001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D003394 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q75.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10066946 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D003394 MESH CUI
http://purl.bioontology.org/ontology/RCD/PG04. RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/28861008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10066950 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-00C05 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10066946 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/28861008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10066950 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q75.1 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10066946 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10066950 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000868 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/175700 OMIM CUI
http://purl.bioontology.org/ontology/MESH/C537300 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10053878 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-00D03 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/165240 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10053878 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053878 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/32985001 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.231 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3430 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.1 ICD10CM LOOM
http://purl.jp/bio/4/id/200906017778515764 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066946 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniofacial_dysostosis RPO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.231 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PG04.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MESH/D003394 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84653 NCIT LOOM
http://purl.obolibrary.org/obo/HP_0004439 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0004439 EFO LOOM
http://purl.obolibrary.org/obo/HP_0004439 HP LOOM
http://purl.obolibrary.org/obo/HP_0004439 UPHENO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003394 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84653 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0004691 OMIT LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.1 ICD10 LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037615 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.370.231 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniofacial_Dysostosis CSEO LOOM