Ontology Browser

Term:
amelogenesis imperfecta type 1E (DOID:0110058)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
alpha thalassemia-X-linked intellectual disability syndrome  
Amelogenesis Imperfecta Hypomaturation Type +   
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1E  
An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX). (DO)
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
Amelogenesis Imperfecta Type 1J  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
Amelogenesis Imperfecta Type 3C  
amelogenesis imperfecta type 4  
brachyolmia-amelogenesis imperfecta syndrome  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
Christianson syndrome  
Coffin-Lowry syndrome  
Cone Rod Dystrophy Amelogenesis Imperfecta  
congenital disorder of glycosylation type IIm  
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
Deafness Enamel Hypoplasia Nail Defects  
focal dermal hypoplasia +   
fragile X syndrome +   
Jalili Syndrome  
Kohlschutter Tonz Syndrome  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
Ogden syndrome  
orofaciodigital syndrome I  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
X-linked Alport syndrome  
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 +   
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  

Synonyms
Exact Synonyms: AI1E ;   AIH1 ;   AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH ;   Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1 ;   Amelogenesis Imperfecta, Type 1E, with Snow-Capped Teeth ;   Amelogenesis imperfecta, X-linked 1 ;   X-linked enamel hypoplasia ;   amelogenesis imperfecta hypomaturationtype with snow-capped teeth ;   amelogenesis imperfecta type IE
Primary IDs: MESH:C538243 ;   MESH:C564463
Alternate IDs: OMIM:301200 ;   RDO:0004195 ;   RDO:0013414

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.