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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616509
http://purl.bioontology.org/ontology/OMIM/616509
|
|---|---|
| Preferred Name | CATARACT 44 |
| Synonyms |
CATARACT 44 AND HYPOTRICHOSIS
CTRCT44
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CATARACT 44 AND HYPOTRICHOSIS
CTRCT44
|
|---|---|
| prefLabel | CATARACT 44
|
| Gene Symbol |
LSS
CTRCT44
HYPT14
OSC
APMR4
|
| Scope Statement | Based on a report of 4 patients from 2 consanguineous families with homozygous LSS mutations (last curated December 2018) [MISCELLANEOUS]
Caused by mutation in the lanosterol synthase gene (LSS, 600909.0001) [MOLECULAR BASIS]
A patient with congenital cataracts and hypotrichosis (618275) has been reported due to compound heterozygous mutations in LSS [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616509
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225300
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |