Preferred Name |
FISH-EYE DISEASE |
Synonyms |
ALPHA-LCAT DEFICIENCY |
ID |
http://purl.bioontology.org/ontology/OMIM/136120 |
altLabel |
ALPHA-LCAT DEFICIENCY ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY LCATA DEFICIENCY FED DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY |
cui |
C0342895 |
Gene Locus |
16q22.1 |
Gene Symbol |
LCAT |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018117 http://purl.bioontology.org/ontology/OMIM/MTHU036760 http://purl.bioontology.org/ontology/OMIM/MTHU011892 http://purl.bioontology.org/ontology/OMIM/MTHU004893 http://purl.bioontology.org/ontology/OMIM/MTHU018120 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
136120 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
FISH-EYE DISEASE |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/D007863 | Medical Subject Headings | CUI |