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Marfan syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007947

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. [ https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome ]

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10026829 (Orphanet:558/e)
  • OMIM:610168 (Orphanet:558/ntbt)
  • NCIT:C34807 (MONDO:equivalentTo)
  • UMLS:CN202883 (MONDO:equivalentTo)
  • MESH:D008382 (Orphanet:558/e)
  • OMIM:154700 (Orphanet:558/btnt)
  • UMLS:C0024796 (Orphanet:558/e)
  • SCTID:19346006 (MONDO:equivalentTo)
  • DOID:14323 (MONDO:equivalentTo)
  • Orphanet:558 (OMIM:154700)
  • Orphanet:284963 (OMIM:154700)
  • GARD:0006975 (MONDO:equivalentTo)
  • ICD9:759.82 (MONDO:i2s)
Subsets

gard_rare, ordo_disease, ordo_clinical_subtype, prototype_pattern, clingen

abbreviation
MFS [ MONDO : Lexical Orphanet : 558 https://omim.org/entry/154700 ]
abbreviation
MFS1 [ Orphanet : 284963 ]
closeMatch
  • http://identifiers.org/meddra/10026829
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.
exactMatch
  • https://omim.org/entry/154700
  • http://www.orpha.net/ORDO/Orphanet_558
  • http://identifiers.org/snomedct/19346006
  • http://purl.obolibrary.org/obo/NCIT_C34807
  • http://linkedlifedata.com/resource/umls/id/C0024796
  • http://www.orpha.net/ORDO/Orphanet_284963
  • http://linkedlifedata.com/resource/umls/id/CN202883
  • http://purl.obolibrary.org/obo/DOID_14323
  • http://identifiers.org/mesh/D008382
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0020208
  • http://purl.obolibrary.org/obo/MONDO_0020211
  • http://purl.obolibrary.org/obo/MONDO_0017311
  • http://purl.obolibrary.org/obo/MONDO_0020236
  • http://purl.obolibrary.org/obo/MONDO_0019755
excluded synonym
  • Contractural arachnodactyly
has exact synonym
  • Marfan syndrome, type 1
  • Marfan's syndrome
  • Marfan syndrome type 1
  • MFS1
  • Marfan syndrome
  • MFS
id
  • MONDO:0007947
seeAlso
  • https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/3155
  • https://github.com/monarch-initiative/mondo/issues/4948