hereditary spherocytosis type 2
hereditary spherocytosis that has material basis in an autosomal dominant mutation of SPTB on chromosome 14q23.3
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hereditary spherocytosis type 2
Summary
hereditary spherocytosis type 2 is a rare disease[1].
Key Facts
- hereditary spherocytosis type 2's instance of is recorded as rare disease[2].
- hereditary spherocytosis type 2's instance of is recorded as class of disease[3].
- hereditary spherocytosis type 2's subclass of is recorded as hereditary spherocytosis[4].
- hereditary spherocytosis type 2's subclass of is recorded as genetic disease[5].
- hereditary spherocytosis type 2's subclass of is recorded as autosomal dominant disease[6].
- hereditary spherocytosis type 2's OMIM ID is recorded as 616649[7].
- hereditary spherocytosis type 2's Disease Ontology ID is recorded as DOID:0110917[8].
- hereditary spherocytosis type 2's genetic association is recorded as SPTB[9].
- hereditary spherocytosis type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110917[10].
- hereditary spherocytosis type 2's exact match is recorded as http://identifiers.org/doid/DOID:0110917[11].
- hereditary spherocytosis type 2's UMLS CUI is recorded as C2674219[12].
- hereditary spherocytosis type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- hereditary spherocytosis type 2's Mondo ID is recorded as MONDO_0000913[14].
- hereditary spherocytosis type 2's UniProt disease ID is recorded as DI-02322[15].