Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

amelogenesis imperfecta
Synonyms
Definitions

Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

ID

http://purl.obolibrary.org/obo/MONDO_0019507

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0019507

database_cross_reference

Orphanet:88661

icd11.foundation:1923123066

UMLS:C0002452

OMIMPS:104500

CSP:0828-0533

MESH:D000567

SCTID:78494001

DOID:2187

GARD:5791

ICD9:520.5

MEDGEN:240

NORD:765

definition

Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

exactMatch

http://identifiers.org/mesh/D000567

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1923123066

http://identifiers.org/snomedct/78494001

http://purl.obolibrary.org/obo/Orphanet_88661

http://linkedlifedata.com/resource/umls/id/C0002452

https://omim.org/phenotypicSeries/PS104500

http://purl.obolibrary.org/obo/DOID_2187

http://identifiers.org/medgen/240

id

MONDO:0019507

in_subset

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

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

amelogenesis imperfecta

notation

MONDO:0019507

preferred label

amelogenesis imperfecta

prefLabel

amelogenesis imperfecta

see also

https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_1001304

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019507 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019507 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019507 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019507 KTAO SAME_URI
http://purl.org/obo/owl/HP#HP_0000705 BDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-51009 SNMI LOOM
http://purl.jp/bio/4/id/200906088758919995 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0000705 HP LOOM
http://purl.obolibrary.org/obo/HP_0000705 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000705 OBA LOOM
http://id.nlm.nih.gov/mesh/D000567 MDM LOOM
http://purl.bioontology.org/ontology/RCTV2/J005000 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/J0050 RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0002452 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.793.700.255.500 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11823 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#989 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.850.800.255.500 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039487 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2187 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081678 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0001986 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_2187 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2187 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2187 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2187 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2187 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2187 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2187 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2187 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/D000567 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C07.650.800.255.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037342 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/78494001 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000567 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_88661 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 KTAO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0673 IFAR LOOM
rgo:08665 GAMUTS LOOM