Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

dentinogenesis imperfecta
Synonyms
Definitions

A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_4154
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

SNOMEDCT_US_2023_03_01:367461002

ICD10CM:K00.5

MESH:D003811

UMLS_CUI:C0011436

GARD:6258

MIM:125490

MIM:125500

NCI:C84667

ORDO:49042
definition

A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.

OMIM mapping confirmed by DO. [SN].
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:4154
in_subset

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

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

dentinogenesis imperfecta
notation

DOID:4154
note

A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22.

OMIM mapping confirmed by DO. [SN].
preferred label

dentinogenesis imperfecta
prefLabel

dentinogenesis imperfecta
subClassOf

http://purl.obolibrary.org/obo/DOID_1091

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_4154 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_4154 FNS-H SAME_URI
http://purl.org/obo/owl/HP#HP_0000703 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3748 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0678 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.793.700.270 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/J0051 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.850.800.270 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0000703 HP LOOM
http://purl.obolibrary.org/obo/HP_0000703 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000703 OBA LOOM
rgo:30122 GAMUTS LOOM
http://purl.jp/bio/4/id/200906070577749420 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10054013 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Dentinogenesis_Imperfecta CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0018849 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018849 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018849 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/196286005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C84667 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003811 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039489 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84667 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D003811 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.650.800.270 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0005088 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_49042 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10638 HRDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4154 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_4154 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4154 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4154 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4154 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4154 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4154 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4154 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036675 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-51007 SNMI LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0011436 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/J005100 RCTV2 LOOM