loading...| Preferred Name |
transcobalamin II deficiency |
| Synonyms |
inherited deficiency of transcobalamin transcobalamin II deficiency transcobalamin deficiency transcobalamin 2 deficiency Tcn2 deficiency TCN2 deficiency TC 2 deficiency |
| Definitions |
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0010149 |
| database_cross_reference |
DOID:0050818 OMIM:275350 SCTID:237934001 UMLS:C0342701 Orphanet:859 ICD10CM:D51.2 NCIT:C142806 GARD:0012338 |
| definition |
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. |
| exactMatch |
http://identifiers.org/snomedct/237934001 http://purl.obolibrary.org/obo/DOID_0050818 http://purl.obolibrary.org/obo/NCIT_C142806 http://purl.bioontology.org/ontology/ICD10CM/D51.2 http://linkedlifedata.com/resource/umls/id/C0342701 |
| has_exact_synonym |
inherited deficiency of transcobalamin transcobalamin II deficiency TCN2 deficiency |
| has_related_synonym |
transcobalamin deficiency transcobalamin 2 deficiency Tcn2 deficiency TC 2 deficiency |
| id |
MONDO:0010149 |
| in_subset | |
| label |
transcobalamin II deficiency |
| notation |
MONDO:0010149 |
| prefLabel |
transcobalamin II deficiency |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0019220 http://purl.obolibrary.org/obo/MONDO_0000424 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019220 http://purl.obolibrary.org/obo/MONDO_0000424 |