loading...| Preferred Name | lactose intolerance | |
| Synonyms |
lactase persistence LM - lactose malabsorption lactose intolerance lactose intolerance (disease) |
|
| Definitions |
Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1000062 |
|
| database_cross_reference |
icd11.foundation:1026224967 MONDO:0100345 SCTID:267425008 MESH:D007787 MEDGEN:6001 UMLS:C0022951 MedDRA:10023681 DOID:10604 HP:0004789 ICD10:E73 ICD9:271.3 NCIT:C3154 |
|
| definition |
Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose. |
|
| definition_citation |
DOID_10604 HP:0004789 |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C3154 http://linkedlifedata.com/resource/umls/id/C0022951 http://identifiers.org/medgen/6001 http://purl.obolibrary.org/obo/DOID_10604 http://purl.obolibrary.org/obo/EFO_1000062 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1026224967 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
LM - lactose malabsorption lactose intolerance lactose intolerance (disease) |
|
| has_related_synonym |
lactase persistence |
|
| IAO_0000589 |
lactose intolerance (disease) |
|
| id |
EFO:1000062 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
lactose intolerance |
|
| notation |
EFO:1000062 |
|
| preferred label |
lactose intolerance |
|
| prefLabel |
lactose intolerance |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |