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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | JACKSON-WEISS SYNDROME | |
| Synonyms |
JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/123150 |
|
| altLabel |
JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
|
|
| cui |
C0795998
|
|
| Gene Locus |
10q26
|
|
| Gene Symbol |
TK14 JWS BEK CFD1 FGFR2 BBDS
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018809 http://purl.bioontology.org/ontology/OMIM/MTHU018810 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU000259 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| Moved from |
218500
|
|
| notation |
123150
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
JACKSON-WEISS SYNDROME
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|
| Scope Statement |
Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0007) [MOLECULAR BASIS] Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001) [MOLECULAR BASIS]
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|
| tui |
T047
|
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