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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/150230
http://purl.bioontology.org/ontology/OMIM/150230
|
|---|---|
| Preferred Name | TRICHORHINOPHALANGEAL SYNDROME, TYPE II |
| Synonyms |
LGS
CHROMOSOME 8q24.1 DELETION SYNDROME
TRPS2
LANGER-GIEDION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LGS
CHROMOSOME 8q24.1 DELETION SYNDROME
TRPS2
LANGER-GIEDION SYNDROME
|
|---|---|
| prefLabel | TRICHORHINOPHALANGEAL SYNDROME, TYPE II
|
| Gene Symbol |
LGCR
TRPS2
LGS
|
| Scope Statement | Majority of cases sporadic [MISCELLANEOUS]
A contiguous gene syndrome caused by loss of functional copies of zinc finger transcription factor TRPS1 (TRPS1, 604386) and exostosin glycosyltransferase 1 (EXT1, 608177) [MOLECULAR BASIS]
Male predominance [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 8q24.11-q24.13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 150230
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0023003
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |