loading...| Preferred Name |
Marfan Syndrome |
| Synonyms |
Marfan Like Connective Tissue Disorder |
| Definitions |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
| ID |
http://purl.bioontology.org/ontology/MESH/D008382 |
| altLabel |
Marfan Like Connective Tissue Disorder Marfans Syndrome Marfan Syndrome Type 2 Marfan Syndrome Type 1 Marfan's Syndrome Marfan Syndrome, Type II Marfan Syndrome, Type I |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0024796 C4721845 C2931058 |
| DC |
1 |
| definition |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
| DX |
19850101 |
| FX |
D055947 D056846 |
| HN |
1985; use ARACHNODACTYLY 1963-1984 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
1985; see ARACHNODACTYLY 1963-1984 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C531742 http://purl.bioontology.org/ontology/MESH/C537724 http://purl.bioontology.org/ontology/MESH/C538192 http://purl.bioontology.org/ontology/MESH/C565411 http://purl.bioontology.org/ontology/MESH/C537328 http://purl.bioontology.org/ontology/MESH/C563814 |
| MDA |
19990101 |
| MMR |
20220523 |
| MN |
C16.131.240.400.720 C14.240.400.725 C17.300.500 C05.116.099.674 C14.280.400.725 C16.131.077.550 C16.320.540 |
| notation |
D008382 |
| prefLabel |
Marfan Syndrome |
| TERMUI |
T001103233 T811740 T001103236 T024932 T001103234 T001103232 T024931 |
| TH |
UNK (19XX) NLM (1966) NLM (2022) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D001848 http://purl.bioontology.org/ontology/MESH/D030342 http://purl.bioontology.org/ontology/MESH/D006330 |