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loading...| Preferred Name |
STIFF SKIN SYNDROME |
| Synonyms |
SSKS |
| ID |
http://purl.bioontology.org/ontology/OMIM/184900 |
| altLabel |
SSKS |
| cui |
C1861456 |
| Gene Locus |
15q21.1 |
| Gene Symbol |
GPHYSD2 WMS2 ACMICD MFS1 SSKS ECTOL1 FBN1 MFLS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU012428 http://purl.bioontology.org/ontology/OMIM/MTHU037286 http://purl.bioontology.org/ontology/OMIM/MTHU003721 http://purl.bioontology.org/ontology/OMIM/MTHU067411 http://purl.bioontology.org/ontology/OMIM/MTHU027488 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
184900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
STIFF SKIN SYNDROME |
| Scope Statement |
Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0050) [MOLECULAR BASIS] |
| tui |
T047 |
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