Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Crouzon syndrome
Synonyms

CS

Definitions

(CS) - An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

ID

http://identifiers.org/omim/123500

altLabel

CS

definition

(CS) - An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

id

OMIM:123500

notation

OMIM:123500

prefLabel

Crouzon syndrome

subClassOf

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

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Mapping To Ontology Source
http://identifiers.org/omim/123500 REXO SAME_URI
http://identifiers.org/omim/123500 GEXO SAME_URI
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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 DOVES 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://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 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2339 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2339 DDSS 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.obolibrary.org/obo/HIO_0000193 HIO LOOM
http://purl.org/skeletome/bonedysplasia#Crouzon_syndrome BDO LOOM
rgo:08707 GAMUTS LOOM