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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/137940
http://purl.bioontology.org/ontology/OMIM/137940
|
|---|---|
| Preferred Name | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME |
| Synonyms |
HLTRS
GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES
TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HLTRS
GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES
TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
|
|---|---|
| prefLabel | HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
|
| Gene Symbol |
HLTRS
SOX18
HLTS
|
| Scope Statement | Three patients with SOX 18 mutations from 2 unrelated families have been reported (last curated June 2015) [MISCELLANEOUS]
Caused by mutation in the SRY-box 18 gene (SOX18, 601618.0003) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 20q13.33
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 137940
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4317151
C1841989
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |