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amelogenesis imperfecta

Go to external page http://purl.obolibrary.org/obo/MONDO_0019507

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. [ Orphanet:88661 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:78494001 (MONDO:equivalentTo)
  • MEDGEN:240 (MONDO:equivalentTo)
  • DOID:2187 (MONDO:equivalentTo)
  • NORD:765 (MONDO:NORD)
  • OMIMPS:104500 (https://orcid.org/0000-0002-6601-2165)
  • MESH:D000567 (Orphanet:88661/e)
  • ICD9:520.5 (MONDO:relatedTo)
  • Orphanet:88661 (MONDO:equivalentTo)
  • GARD:5791 (MONDO:GARD)
  • CSP:0828-0533 (DOID:2187)
  • icd11.foundation:1923123066 (Orphanet:88661)
  • UMLS:C0002452 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_mouth_disorder, mondo_top_grouping_musculoskeletal_system_disorder, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_musculoskeletal_system_disorder, orphanet_rare

curated content resource

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

exactMatch

http://www.orpha.net/ORDO/Orphanet_88661

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

http://identifiers.org/snomedct/78494001

https://omim.org/phenotypicSeries/PS104500

http://identifiers.org/medgen/240

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

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

http://identifiers.org/mesh/D000567

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

id

MONDO:0019507

seeAlso

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml