Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/301200
http://purl.bioontology.org/ontology/OMIM/301200
Preferred Name

AMELOGENESIS IMPERFECTA, TYPE IE
Synonyms
AIH1
ENAMEL HYPOPLASIA, X-LINKED 1
AI1E
AMELOGENESIS IMPERFECTA, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AIH1
ENAMEL HYPOPLASIA, X-LINKED 1
AI1E
AMELOGENESIS IMPERFECTA, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
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prefLabel
AMELOGENESIS IMPERFECTA, TYPE IE
Gene Symbol
AI1E
AMELX
AIH1
AMGX
AMG
Scope Statement
Caused by mutation in the amelogenin gene (AMELX, 300391.0001) [MOLECULAR BASIS]
Carrier females exhibit less severe phenotype attributed to random inactivation of the X chromosome [MISCELLANEOUS]
Phenotypic variability [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
Xp22.3-p22.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
301200
Semantic type UMLS property
Has inheritance type
cui
C1845052
C1845053
Moved from
301100
OMIM Entry Type
3
OMIM MimType Value
pound
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