Mass syndrome - CISMeF

Preferred Label : Mass syndrome;

CISMeF acronym : OCTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OCTD; Mass phenotype; Overlap connective tissue disease;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0012);

Prefixed ID : #604308;

Details

Origin ID

604308;

UMLS CUI

C1858556;

Automatic exact mappings (from CISMeF team)
- 5,7,11,13-octadecatrayne-1,18-diol [MeSH concept]
- 5,7,11,13-octadecatrayne-1,18-diol [MeSH Supplementary Concept]
- FBN1 wt Allele [NCIt concept]
- OTC wt Allele [NCIt concept]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- fibrillin 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Connective tissue disease overlap syndrome (disorder) [SNOMED CT concept]
- MASS syndrome [MeSH concept]
- MASS syndrome [MeSH Supplementary Concept]
- MASS syndrome [ORDO Disease]
- Overlapping connective tissue disease [ORDO Disease]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Aortic aneurysm [HPO term]
- Arachnodactyly [HPO term]
- Ascending aortic dissection [HPO term]
- Autosomal dominant inheritance [HPO term]
- Disproportionate tall stature [HPO term]
- Dural ectasia [HPO term]
- Ectopia lentis [HPO term]
- Mitral valve prolapse [HPO term]
- Pectus carinatum [HPO term]
- Scoliosis [HPO term]
- Striae distensae [HPO term]
ORDO concept(s)
- MASS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MASS syndrome [MeSH Supplementary Concept]
- MASS syndrome [MeSH concept]
- MASS syndrome [ORDO Disease]
- Overlapping connective tissue disease [ORDO Disease]

Keyword's position in hierarchy(ies) :

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