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amelogenesis imperfecta type 1A

Go to external page http://purl.obolibrary.org/obo/MONDO_0007094

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: amelogenesis imperfecta type IA amelogenesis imperfecta hypoplastic type IA AI1A amelogenesis imperfecta caused by mutation in LAMB3 LAMB3 amelogenesis imperfecta

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4011403 (MONDO:equivalentTo)
  • MEDGEN:859840 (MONDO:equivalentTo)
  • OMIM:104530 (MONDO:equivalentTo)
  • DOID:0110054 (MONDO:equivalentTo)
  • GARD:15038 (MONDO:GARD)
  • MESH:C538240 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, mondo_subtype, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_mouth_disorder, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, 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

abbreviation
AI1A [ DOID:0110054 MONDO:Lexical https://omim.org/entry/104530 ]

comment

Not in the OMIM series.

exactMatch

http://identifiers.org/mesh/C538240

http://linkedlifedata.com/resource/umls/id/C4011403

http://purl.obolibrary.org/obo/DOID_0110054

http://identifiers.org/medgen/859840

https://omim.org/entry/104530

has related synonym

amelogenesis imperfecta, type 1A

local hypoplastic amelogenesis imperfecta

amelogenesis imperfecta, hypoplastic type 1A

amelogenesis imperfecta, type IA

amelogenesis imperfecta local hypoplastic

id

MONDO:0007094

seeAlso

https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic