loading...| Preferred Name | MASS syndrome | |
| Synonyms |
Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings overlap connective tissue disease OCTD MASS phenotype MASS syndrome |
|
| Definitions |
A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011431 |
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| database_cross_reference |
UMLS:C1858556 MEDGEN:346932 Orphanet:99715 OMIM:604308 MESH:C536030 GARD:8489 |
|
| definition |
A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. |
|
| has_exact_synonym |
MASS phenotype MASS syndrome |
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| has_related_synonym |
Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings overlap connective tissue disease OCTD |
|
| id |
MONDO:0011431 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
MASS syndrome |
|
| notation |
MONDO:0011431 |
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| preferred label |
MASS syndrome |
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| prefLabel |
MASS syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome |
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| skos_exactMatch |
http://identifiers.org/medgen/346932 |
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| subClassOf |