transcobalamin II deficiency
vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII
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transcobalamin II deficiency
Summary
transcobalamin II deficiency is a rare disease[1].
Key Facts
- transcobalamin II deficiency's instance of is recorded as rare disease[2].
- transcobalamin II deficiency's instance of is recorded as class of disease[3].
- transcobalamin II deficiency's subclass of is recorded as vitamin B12 deficiency[4].
- transcobalamin II deficiency's subclass of is recorded as inborn disorder of cobalamin metabolism and transport[5].
- transcobalamin II deficiency's subclass of is recorded as syndrome with combined immunodeficiency[6].
- transcobalamin II deficiency's subclass of is recorded as vitamin B12 deficiency anemia[7].
- transcobalamin II deficiency's OMIM ID is recorded as 275350[8].
- transcobalamin II deficiency's KEGG ID is recorded as H01190[9].
- transcobalamin II deficiency's Disease Ontology ID is recorded as DOID:0050818[10].
- transcobalamin II deficiency's Orphanet ID is recorded as 859[11].
- transcobalamin II deficiency's NCI Thesaurus ID is recorded as C142806[12].
- transcobalamin II deficiency's genetic association is recorded as TCN2[13].
- transcobalamin II deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050818[14].
- transcobalamin II deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0050818[15].
- transcobalamin II deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_859[16].
- transcobalamin II deficiency's UMLS CUI is recorded as C1420653[17].
- transcobalamin II deficiency's UMLS CUI is recorded as C0342701[18].
- transcobalamin II deficiency's ICD-10-CM is recorded as D51.2[19].
- transcobalamin II deficiency's GARD rare disease ID is recorded as 12338[20].
- transcobalamin II deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- transcobalamin II deficiency's Mondo ID is recorded as MONDO_0010149[22].
- transcobalamin II deficiency's UniProt disease ID is recorded as DI-02378[23].