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loading...| Preferred Name |
MASS syndrome |
| Synonyms |
Mass phenotype |
| ID |
http://purl.bioontology.org/ontology/MESH/C536030 |
| altLabel |
Mass phenotype Overlap connective tissue disease |
| cui |
C1858556 |
| HM |
D008945 D012871 D009216 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012871 |
| MDA |
20100825 |
| MeSH Frequency |
10 |
| MMR |
20121105 |
| notation |
C536030 |
| prefLabel |
MASS syndrome |
| SC |
3 |
| Scope Statement |
Autosomal dominant disorder of CONNECTIVE TISSUE characterized by myopia, mitral valve prolapse, borderline and non-progressive aortic enlargement, and nonspecific skin and skeletal features (MASS). It can be associated with mutations in the gene encoding FIBRILLIN |
| TERMUI |
T738025 T738023 T738024 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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