amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32
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amelogenesis imperfecta hypomaturation type 2A5
Summary
amelogenesis imperfecta hypomaturation type 2A5 is a rare disease[1].
Key Facts
- amelogenesis imperfecta hypomaturation type 2A5's instance of is recorded as rare disease[2].
- amelogenesis imperfecta hypomaturation type 2A5's instance of is recorded as class of disease[3].
- amelogenesis imperfecta hypomaturation type 2A5's subclass of is recorded as amelogenesis imperfecta[4].
- amelogenesis imperfecta hypomaturation type 2A5's subclass of is recorded as autosomal recessive disease[5].
- amelogenesis imperfecta hypomaturation type 2A5's OMIM ID is recorded as 615887[6].
- amelogenesis imperfecta hypomaturation type 2A5's Disease Ontology ID is recorded as DOID:0110063[7].
- amelogenesis imperfecta hypomaturation type 2A5's health specialty is recorded as gastroenterology[8].
- amelogenesis imperfecta hypomaturation type 2A5's genetic association is recorded as SLC24A4[9].
- amelogenesis imperfecta hypomaturation type 2A5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110063[10].
- amelogenesis imperfecta hypomaturation type 2A5's exact match is recorded as http://identifiers.org/doid/DOID:0110063[11].
- amelogenesis imperfecta hypomaturation type 2A5's UMLS CUI is recorded as C4014578[12].
- amelogenesis imperfecta hypomaturation type 2A5's ICD-10-CM is recorded as K00.5[13].
- amelogenesis imperfecta hypomaturation type 2A5's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- amelogenesis imperfecta hypomaturation type 2A5's Mondo ID is recorded as MONDO_0014385[15].
- amelogenesis imperfecta hypomaturation type 2A5's UniProt disease ID is recorded as DI-04153[16].