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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614485
http://purl.bioontology.org/ontology/OMIM/614485
|
|---|---|
| Preferred Name | TRIGONOCEPHALY 2 |
| Synonyms |
TRIGNO2
CRANIOSYNOSTOSIS, METOPIC
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TRIGNO2
CRANIOSYNOSTOSIS, METOPIC
|
|---|---|
| prefLabel | TRIGONOCEPHALY 2
|
| Gene Symbol |
C9orf154
FREM1
BNAR
TRIGNO2
MOTA
|
| Scope Statement | Caused by mutation in the FRAS1-related extracellular matrix protein-1 gene (FREM1, 608944.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T019
|
| Gene Locus | 9p22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614485
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3280974
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |