Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Amelogenesis imperfecta
Synonyms
Definitions

A rare genetic odontal or periodontal disorder that 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://www.orpha.net/ORDO/Orphanet_88661

definition

A rare genetic odontal or periodontal disorder that 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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=88661

has_age_of_onset

Infancy

Neonatal

has_inheritance

X-linked dominant

Autosomal recessive

Autosomal dominant

hasDbXref

OMIM:104510

OMIM:620104

OMIM:104530

UMLS:C0002452

OMIM:612529

OMIM:616270

OMIM:617217

OMIM:615887

OMIM:104500

OMIM:613211

ICD-10:K00.5

OMIM:614832

OMIM:204650

MeSH:D000567

OMIM:616221

ICD-11:LA30.6

OMIM:204700

OMIM:130900

OMIM:301201

OMIM:301200

label

Amelogenesis imperfecta

notation

ORPHA:88661

part_of

http://www.orpha.net/ORDO/Orphanet_164001

http://www.orpha.net/ORDO/Orphanet_420755

prefixIRI

ORDO:Orphanet_88661

prefLabel

Amelogenesis imperfecta

present_in

India AND has_point_prevalence_average_value : 90.0 AND has_point_prevalence_range : 6-9 / 10 000

Sweden AND has_point_prevalence_average_value : 142.0 AND has_point_prevalence_range : >1 / 1000

United States AND has_point_prevalence_average_value : 7.1 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_164001

http://www.orpha.net/ORDO/Orphanet_420755

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_88661 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_88661 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_88661 EFO 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://purl.obolibrary.org/obo/MONDO_0019507 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019507 EFO 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
http://www.gamuts.net/entity#amelogenesis_imperfecta GAMUTS REST