JSON

amelogenesis imperfecta type 2A1

^ 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 ]

Term info

database cross reference
  • MESH:C538242 (MONDO:equivalentTo)
  • GARD:0009495 (MONDO:equivalentTo)
  • OMIM:204700 (MONDO:equivalentTo)
  • DOID:0110057 (MONDO:equivalentTo)
  • MESH:C567146 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
AI2A1 [ DOID:0110057 OMIM:204700 MESH:C538242 MONDO:Lexical ]

IAO 0000233

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

definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.

exactMatch

http://identifiers.org/mesh/C567146, https://omim.org/entry/204700, http://purl.obolibrary.org/obo/DOID_0110057, http://identifiers.org/mesh/C538242

has exact synonym

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

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 relations