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 |
DOID:10604 MESH:D007787 UMLS:C0022951 NCIT:C3154 ICD9:271.3 SCTID:267425008 MONDO:0100345 ICD10:E73 HP:0004789 MedDRA:10023681 |
| 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://linkedlifedata.com/resource/umls/id/C0022951 http://purl.obolibrary.org/obo/DOID_10604 http://identifiers.org/mesh/D007787 |
| 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 |
| label |
lactose intolerance |
| notation |
EFO:1000062 |
| prefLabel |
lactose intolerance |
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0001069 |