loading...| Preferred Name | Marfan syndrome | |
| Synonyms |
Marfan's syndrome Marfan syndrome type 1 Marfan syndrome, type 1 Marfan syndrome MFS MFS1 |
|
| Definitions |
A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007947 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007947 |
|
| database_cross_reference |
ICD9:759.82 Orphanet:284963 icd11.foundation:236564145 Orphanet:558 OMIM:154700 UMLS:C0024796 MESH:D008382 MEDGEN:44287 NANDO:1200644 SCTID:19346006 NCIT:C34807 NANDO:2200968 MedDRA:10026829 DOID:14323 GARD:16535 NORD:1403 |
|
| definition |
A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. |
|
| has_exact_synonym |
Marfan's syndrome Marfan syndrome type 1 Marfan syndrome, type 1 Marfan syndrome MFS MFS1 |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6751 |
|
| id |
MONDO:0007947 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern |
|
| label |
Marfan syndrome |
|
| notation |
MONDO:0007947 |
|
| preferred label |
Marfan syndrome |
|
| prefLabel |
Marfan syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/236564145 http://identifiers.org/medgen/44287 http://purl.obolibrary.org/obo/Orphanet_284963 http://identifiers.org/mesh/D008382 http://linkedlifedata.com/resource/umls/id/C0024796 http://purl.obolibrary.org/obo/DOID_14323 http://purl.obolibrary.org/obo/NCIT_C34807 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0017310 |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0020211 http://purl.obolibrary.org/obo/MONDO_0017311 |