Ontology Browser

Term:
amelogenesis imperfecta (DOID:2187)
Annotations: Rat: (30) Mouse: (29) Human: (30) Chinchilla: (27) Bonobo: (29) Dog: (29) Squirrel: (28)
Parent Terms Term With Siblings Child Terms
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
amelogenesis imperfecta +   
A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Ameloonychohypohidrotic Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Oculodentoosseous Dysplasia Recessive 
Pfeiffer Palm Teller Syndrome 
Seow Najjar Syndrome 
Singleton Merten Syndrome +   
Tricho-Dento-Osseous Syndrome  
Trichoodontoonychial Dysplasia 

Synonyms
Exact Synonyms: Congenital Enamel Hypoplasia
Related Synonyms: Dental hypomineralization
Primary IDs: MESH:D000567
Alternate IDs: OMIA:002015 ;   RDO:0001370
Xrefs: GARD:5791 ;   OMIM:PS104500 ;   ORDO:88661
Definition Sources: MESH:D000567, http://en.wikipedia.org/wiki/Amelogenesis_imperfecta, http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract

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