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amelogenesis imperfecta type 2A1

Go to external page http://purl.obolibrary.org/obo/MONDO_0008772

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta, type IIA1 KLK4 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in KLK4 amelogenesis imperfecta type IIA1 AI2A1

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:436039 (MONDO:equivalentTo)
  • OMIM:204700 (MONDO:equivalentTo)
  • DOID:0110057 (MONDO:equivalentTo)
  • MESH:C538242 (MONDO:equivalentTo)
  • MESH:C567146 (MONDO:equivalentTo)
  • UMLS:C2673922 (MONDO:equivalentTo)
  • GARD:9495 (MONDO:GARD)
Subsets

matrix_llm__is_cancer_other, gard_rare, 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_included, matrix_llm__tag_existing_treatment_other, 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
AI2A1 [ DOID:0110057 MESH:C538242 https://omim.org/entry/204700 MONDO:Lexical ]

exactMatch

http://identifiers.org/mesh/C567146

http://identifiers.org/medgen/436039

http://linkedlifedata.com/resource/umls/id/C2673922

https://omim.org/entry/204700

http://purl.obolibrary.org/obo/DOID_0110057

http://identifiers.org/mesh/C538242

has related synonym

amelogenesis imperfecta, pigmented hypomaturation type, 1

amelogenesis imperfecta pigmented hypomaturation type

amelogenesis imperfecta, hypomaturation type, IIA1

id

MONDO:0008772

seeAlso

https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521