loading...| Preferred Name | TRIGONOCEPHALY 1 | |
| Synonyms |
CRANIOSYNOSTOSIS, METOPIC TRIGNO1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/190440 |
|
| altLabel |
CRANIOSYNOSTOSIS, METOPIC TRIGNO1 |
|
| cui |
C0432122 |
|
| Gene Locus |
8p11.2-p11.1 |
|
| Gene Symbol |
FGFR1 FLT2 HH2 HRTFDS ECCL OGD KAL2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015189 http://purl.bioontology.org/ontology/OMIM/MTHU015191 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU005288 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU005345 http://purl.bioontology.org/ontology/OMIM/MTHU010103 http://purl.bioontology.org/ontology/OMIM/MTHU015187 http://purl.bioontology.org/ontology/OMIM/MTHU015190 http://purl.bioontology.org/ontology/OMIM/MTHU036885 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
190440 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
TRIGONOCEPHALY 1 |
|
| Scope Statement |
Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1, 136350.0011) [MOLECULAR BASIS] |
|
| tui |
T019 |