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Cell Culture Ontology
| Preferred Name | inborn disorder of cobalamin metabolism and transport | |
| Synonyms |
disorder of cobalamin metabolism and transport hypocobalaminemia cobalamin deficiency inborn vitamin B12 deficiency (disease) inborn disorder of cobalamin metabolism and transport inborn error of cobalamin metabolic process rare inborn error of cobalamin metabolic process |
|
| Definitions |
An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019220 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019220 |
|
| database_cross_reference |
Orphanet:79171 icd11.foundation:936546617 MEDGEN:1826150 UMLS:C5681844 DOID:0050731 GARD:18951
|
|
| definition |
An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
|
|
| has_broad_synonym |
hypocobalaminemia cobalamin deficiency
|
|
| has_exact_synonym |
inborn vitamin B12 deficiency (disease) inborn disorder of cobalamin metabolism and transport inborn error of cobalamin metabolic process rare inborn error of cobalamin metabolic process
|
|
| has_related_synonym |
disorder of cobalamin metabolism and transport
|
|
| IAO_0000233 | ||
| id |
MONDO:0019220
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inborn disorder of cobalamin metabolism and transport
|
|
| notation |
MONDO:0019220
|
|
| preferred label |
inborn disorder of cobalamin metabolism and transport
|
|
| prefLabel |
inborn disorder of cobalamin metabolism and transport
|
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_79171 http://linkedlifedata.com/resource/umls/id/C5681844 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/936546617 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000734 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |