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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/190351
http://purl.bioontology.org/ontology/OMIM/190351
|
|---|---|
| Preferred Name | TRICHORHINOPHALANGEAL SYNDROME, TYPE III |
| Synonyms |
SUGIO-KAJII SYNDROME
TRPS3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SUGIO-KAJII SYNDROME
TRPS3
|
|---|---|
| prefLabel | TRICHORHINOPHALANGEAL SYNDROME, TYPE III
|
| Gene Symbol | TRPS1
|
| Scope Statement | Caused by mutations in the zinc finger transcription factor TRPS1 gene (TRPS1, 604386.0007) [MOLECULAR BASIS]
Allelic to TRP1 (190350) [MISCELLANEOUS]
Cone-shaped epiphyses usually not present before age 2 years [MISCELLANEOUS]
TRP2 (Langer-Giedion syndrome, 150230) is a microdeletion syndrome involving deletions of both the TRPS1 (604386) and EXT1 (608177) genes [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 8q24.12
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 190351
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1860823
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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