Human Disease Ontology

Last uploaded: March 29, 2024
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Preferred Name

craniosynostosis
Synonyms

Premature closure of cranial sutures
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. A synostosis that results_in premature fusion located_in skull.
ID

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

Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].
database_cross_reference

UMLS_CUI:C0010278

OMIM:600775

OMIM:182212

ICD10CM:Q75.0

MESH:D003398

SNOMEDCT_US_2023_03_01:205414007

OMIM:604757

OMIM:600593

OMIM:123100

OMIM:615314

GARD:6209

NCI:C84655

ORDO:1531
definition

A synostosis that results_in premature fusion located_in skull.
has exact synonym

Premature closure of cranial sutures
has_obo_namespace

disease_ontology
id

DOID:2340
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

craniosynostosis
notation

DOID:2340
prefLabel

craniosynostosis
subClassOf

http://purl.obolibrary.org/obo/DOID_11971
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2340 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_2340 FNS-H SAME_URI
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0001363 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015469 KTAO 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://purl.bioontology.org/ontology/MEDLINEPLUS/C0010278 MEDLINEPLUS 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 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00002373 PMAPP-PMO LOOM
http://radlex.org/RID/RID34603 RADLEX LOOM
http://www.gamuts.net/entity#craniosynostosis GAMUTS 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 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2340 HHEAR 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