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loading...| Preferred Name |
LACTASE DEFICIENCY, CONGENITAL |
| Synonyms |
ALACTASIA, CONGENITAL |
| ID |
http://purl.bioontology.org/ontology/OMIM/223000 |
| altLabel |
ALACTASIA, CONGENITAL DISACCHARIDE INTOLERANCE II |
| cui |
C0268179 |
| Gene Locus |
2q21 |
| Gene Symbol |
LPH LAC LCT |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013423 http://purl.bioontology.org/ontology/OMIM/MTHU013422 http://purl.bioontology.org/ontology/OMIM/MTHU013424 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
150220 |
| notation |
223000 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LACTASE DEFICIENCY, CONGENITAL |
| Scope Statement |
Caused by mutation in lactase (LCT, 603202.0001) [MOLECULAR BASIS] Increased frequency in Finland (incidence 1:60,000 Finnish newborns) [MISCELLANEOUS] Onset day of life 1-10 in infants fed lactose-containing milk [MISCELLANEOUS] |
| tui |
T047 |
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