hereditary spherocytosis type 1
hereditary spherocytosis that has material basis in an autosomal dominant mutation of ANK1 on chromosome 8p11.21
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hereditary spherocytosis type 1
Summary
hereditary spherocytosis type 1 is a rare disease[1].
Key Facts
- hereditary spherocytosis type 1's instance of is recorded as rare disease[2].
- hereditary spherocytosis type 1's instance of is recorded as class of disease[3].
- hereditary spherocytosis type 1's subclass of is recorded as hereditary spherocytosis[4].
- hereditary spherocytosis type 1's subclass of is recorded as genetic disease[5].
- hereditary spherocytosis type 1's subclass of is recorded as autosomal dominant disease[6].
- hereditary spherocytosis type 1's subclass of is recorded as autosomal recessive disease[7].
- hereditary spherocytosis type 1's OMIM ID is recorded as 182900[8].
- hereditary spherocytosis type 1's Disease Ontology ID is recorded as DOID:0110916[9].
- hereditary spherocytosis type 1's genetic association is recorded as ANK1[10].
- hereditary spherocytosis type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110916[11].
- hereditary spherocytosis type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110916[12].
- hereditary spherocytosis type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_822[13].
- hereditary spherocytosis type 1's UMLS CUI is recorded as C2674218[14].
- hereditary spherocytosis type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- hereditary spherocytosis type 1's Mondo ID is recorded as MONDO_0008447[16].
- hereditary spherocytosis type 1's UniProt disease ID is recorded as DI-02321[17].