loading...| Preferred Name |
lactose intolerance |
|
| Synonyms |
LM - lactose malabsorption lactose intolerance lactose intolerance (disease) lactase persistence |
|
| 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 |
SCTID:267425008 MESH:D007787 UMLS:C0022951 MedDRA:10023681 DOID:10604 HP:0004789 ICD10:E73 ICD9:271.3 NCIT:C3154 MONDO:0100345 |
|
| 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://purl.obolibrary.org/obo/DOID_10604 |
|
| 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 |
|
| prefLabel |
lactose intolerance |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |