amelogenesis imperfecta type 1E
amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX)
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amelogenesis imperfecta type 1E
Summary
amelogenesis imperfecta type 1E is a rare disease[1].
Key Facts
- amelogenesis imperfecta type 1E's instance of is recorded as rare disease[2].
- amelogenesis imperfecta type 1E's instance of is recorded as class of disease[3].
- amelogenesis imperfecta type 1E's subclass of is recorded as amelogenesis imperfecta[4].
- amelogenesis imperfecta type 1E's subclass of is recorded as X-linked dominant disease[5].
- amelogenesis imperfecta type 1E's OMIM ID is recorded as 301200[6].
- amelogenesis imperfecta type 1E's Disease Ontology ID is recorded as DOID:0110058[7].
- amelogenesis imperfecta type 1E's health specialty is recorded as gastroenterology[8].
- amelogenesis imperfecta type 1E's genetic association is recorded as AMELX[9].
- amelogenesis imperfecta type 1E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110058[10].
- amelogenesis imperfecta type 1E's exact match is recorded as http://identifiers.org/doid/DOID:0110058[11].
- amelogenesis imperfecta type 1E's UMLS CUI is recorded as C1845052[12].
- amelogenesis imperfecta type 1E's UMLS CUI is recorded as C1845053[13].
- amelogenesis imperfecta type 1E's ICD-10-CM is recorded as K00.5[14].
- amelogenesis imperfecta type 1E's GARD rare disease ID is recorded as 9943[15].
- amelogenesis imperfecta type 1E's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- amelogenesis imperfecta type 1E's Mondo ID is recorded as MONDO_0010521[17].
- amelogenesis imperfecta type 1E's UniProt disease ID is recorded as DI-00088[18].