amelogenesis imperfecta type 1A

amelogenesis imperfecta type 1A

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

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This is just here as a test because I lose it

Term information

database cross reference

DOID:0110054 (MONDO:equivalentTo)
GARD:15038 (OMIM:104530)
MESH:C538240 (MONDO:equivalentTo)
OMIM:104530 (MONDO:equivalentTo)

Subsets

gard_rare, rare

abbreviation

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

comment

Not in the OMIM series.

exactMatch

http://identifiers.org/mesh/C538240

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

https://omim.org/entry/104530

has related synonym

amelogenesis imperfecta, type 1A

local hypoplastic amelogenesis imperfecta

amelogenesis imperfecta, hypoplastic type 1A

amelogenesis imperfecta local hypoplastic

amelogenesis imperfecta, type IA

MONDO:0007094

seeAlso

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

Term relations

Equivalent to:

amelogenesis imperfecta and has material basis in germline mutation in some LAMB3

Subclass of: