Preferred Name | amelogenesis imperfecta | |
Synonyms |
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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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0019507 |
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curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019507 |
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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 |
|
id |
MONDO:0019507 |
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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 |
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notation |
MONDO:0019507 |
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preferred label |
amelogenesis imperfecta |
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prefLabel |
amelogenesis imperfecta |
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see also |
https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta |
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subClassOf |