Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

transcobalamin II deficiency

Synonyms

TCN2 deficiency

Definitions

A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.

ID

http://purl.obolibrary.org/obo/DOID_0050818

created_by

lschriml

creation_date

2013-12-11T02:48:06Z

database_cross_reference

OMIM:275350

definition

A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.

has exact synonym

TCN2 deficiency

has_obo_namespace

disease_ontology

id

DOID:0050818

label

transcobalamin II deficiency

notation

DOID:0050818

prefLabel

transcobalamin II deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_0050731

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