Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

craniosynostosis
Synonyms

CSO

craniosynostosis syndrome

premature closure of cranial sutures

Definitions

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.

ID

http://purl.obolibrary.org/obo/MONDO_0015469

closeMatch

http://identifiers.org/meddra/10049889

http://identifiers.org/meddra/10048907

database_cross_reference

Orphanet:1531

MedDRA:10048907

GARD:6209

OMIMPS:123100

MESH:D003398

ICD10CM:Q75.0

NCIT:C84655

UMLS:C0010278

MedDRA:10049889

DOID:2340

icd11.foundation:458033798

definition

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0010278

http://purl.obolibrary.org/obo/NCIT_C84655

http://purl.obolibrary.org/obo/Orphanet_1531

http://purl.bioontology.org/ontology/ICD10CM/Q75.0

http://identifiers.org/mesh/D003398

https://omim.org/phenotypicSeries/PS123100

http://purl.obolibrary.org/obo/DOID_2340

has_exact_synonym

craniosynostosis syndrome

premature closure of cranial sutures

has_related_synonym

CSO

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

id

MONDO:0015469

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

craniosynostosis

notation

MONDO:0015469

prefLabel

craniosynostosis

treeView

http://purl.obolibrary.org/obo/MONDO_0001411

http://purl.obolibrary.org/obo/MONDO_0003847

subClassOf

http://purl.obolibrary.org/obo/MONDO_0001411

http://purl.obolibrary.org/obo/MONDO_0003847

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015469 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015469 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO LOOM
rgo:06368 GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Craniosynostosis CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002205 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10/Q75.0 ICD10 LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049889 MEDDRA LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0084 IFAR LOOM
http://www.radlex.org/RID/RID34603 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278 MEDLINEPLUS LOOM
http://nanbyodata.jp/ontology/NANDO_2100227 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C84655 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84655 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q75.0 ICD10CM LOOM
http://purl.bioontology.org/ontology/RCD/XE1Lz RCD LOOM
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://purl.obolibrary.org/obo/HP_0001363 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002373 PMAPP-PMO LOOM
http://radlex.org/RID/RID34603 RADLEX LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2340 NATPRO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_792 HRDO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Craniosynostosis RPO LOOM
http://purl.bioontology.org/ontology/ICPC2P/N85006 ICPC2P LOOM
http://purl.org/obo/owl/HP#HP_0001363 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010278 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2340 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2340 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2340 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2340 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2340 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2340 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2340 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2340 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/0726-0275 CRISP LOOM
http://www.orpha.net/ORDO/Orphanet_1531 ORDO LOOM