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Mondo Disease Ontology
| Preferred Name | inborn disorder of cobalamin metabolism and transport | |
| Synonyms |
disorder of cobalamin metabolism and transport cobalamin deficiency hypocobalaminemia inborn vitamin B12 deficiency (disease) inborn error of cobalamin metabolic process inborn disorder of cobalamin metabolism and transport 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 |
DOID:0050731 MEDGEN:1826150 Orphanet:79171 UMLS:C5681844 icd11.foundation:936546617 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 |
cobalamin deficiency hypocobalaminemia
|
|
| has_exact_synonym |
inborn vitamin B12 deficiency (disease) inborn error of cobalamin metabolic process inborn disorder of cobalamin metabolism and transport 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-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inborn disorder of cobalamin metabolism and transport
|
|
| notation |
MONDO:0019220
|
|
| 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 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0005528 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0005528 |
| Delete | Subject | Author | Type | Created |
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