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loading...| Preferred Name |
JACKSON-WEISS SYNDROME |
| Synonyms |
CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES |
| ID |
http://purl.bioontology.org/ontology/OMIM/123150 |
| altLabel |
CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES JWS |
| cui |
C0795998 |
| Gene Locus |
10q26 |
| Gene Symbol |
TK14 FGFR2 BEK BBDS JWS CFD1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018808 http://purl.bioontology.org/ontology/OMIM/MTHU018810 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU002205 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
218500 |
| notation |
123150 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
JACKSON-WEISS SYNDROME |
| Scope Statement |
Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001) [MOLECULAR BASIS] Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0007) [MOLECULAR BASIS] |
| tui |
T047 |
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