Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

http://purl.bioontology.org/ontology/OMIM/MTHU018118

http://purl.bioontology.org/ontology/OMIM/MTHU027074

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

136120

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FISH-EYE DISEASE

tui

T047

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http://purl.bioontology.org/ontology/MESH/D007863 Medical Subject Headings CUI