amelogenesis imperfecta

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Information
Disease name
amelogenesis imperfecta
Disease ID
DOID:2187
Description
"A dental enamel hypoplasia characterized by abnormal enamel formation." [url:http\://en.wikipedia.org/wiki/Amelogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04704089 Recruiting Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects July 18, 2022 April 18, 2025
NCT04927962 Recruiting Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta September 22, 2021 June 2023
NCT05343247 Recruiting Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta March 1, 2022 May 15, 2024
NCT01746121 Terminated Amelogenesis Imperfecta November 2009 January 2016
NCT04897724 Unknown status N/A Clinical Performance of Composites in Patients With Amelogenesis Imperfecta September 2, 2014
NCT02994862 Unknown status N/A E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent December 2016 December 2017
NCT03810859 Unknown status N/A Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants October 9, 2019 September 15, 2022
Disase is a (Disease Ontology)
DOID:693
Cross Reference ID (Disease Ontology)
GARD:5791
Cross Reference ID (Disease Ontology)
ICD10CM:K00.5
Cross Reference ID (Disease Ontology)
MESH:D000567
Cross Reference ID (Disease Ontology)
MIM:PS104500
Cross Reference ID (Disease Ontology)
ORDO:88661
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:78494001
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0002452
HPO alt_id (Human Phenotype Ontology)
HP:0006284
HPO alt_id (Human Phenotype Ontology)
HP:0006310
HPO alt_id (Human Phenotype Ontology)
HP:0006325
HPO alt_id (Human Phenotype Ontology)
HP:0006327
HPO alt_id (Human Phenotype Ontology)
HP:0006331
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000705
OMIM Phenotype Series Number (OMIM)
PS104500
OrphaNumber from OrphaNet (Orphanet)
88661
MeSH unique ID (MeSH (Medical Subject Headings))
D000567