loading...| Preferred Name | MASS SYNDROME | |
| Synonyms |
MASS PHENOTYPE OCTD OVERLAP CONNECTIVE TISSUE DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/604308 |
|
| altLabel |
MASS PHENOTYPE OCTD OVERLAP CONNECTIVE TISSUE DISEASE |
|
| cui |
C1858556 |
|
| Gene Locus |
15q21.1 |
|
| Gene Symbol |
FBN1 SSKS ECTOL1 MFS1 GPHYSD2 MFLS ACMICD WMS2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU065628 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU013224 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU018359 http://purl.bioontology.org/ontology/OMIM/MTHU001468 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
604308 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MASS SYNDROME |
|
| Scope Statement |
No ectopia lentis [MISCELLANEOUS] Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0012) [MOLECULAR BASIS] No progressive aortic aneurysm or dissection [MISCELLANEOUS] |
|
| tui |
T047 |