loading...| Preferred Name |
Weill-Marchesani Syndrome |
| Synonyms |
Congenital Mesodermal Dysmorphodystrophy |
| Definitions |
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
| ID |
http://purl.bioontology.org/ontology/MESH/D056846 |
| altLabel |
Congenital Mesodermal Dysmorphodystrophy Marchesani-Weill Syndrome Weill-Marchesani Syndrome, Autosomal Dominant Congenital Mesodermal Dysmorphodystrophies Weill Marchesani Syndrome, Autosomal Dominant Marchesani-Weill Syndromes Dysmorphodystrophy, Congenital Mesodermal Mesodermal Dysmorphodystrophies, Congenital GEMSS Syndromes, Spherophakia Brachymorphia Syndrome, Spherophakia Brachymorphia Weill Marchesani Syndrome, Autosomal Recessive Marchesani Weill Syndrome Spherophakia Brachymorphia Syndrome Weill-Marchesani Syndrome, Autosomal Recessive Marchesani Syndrome Weill Marchesani Syndrome Spherophakia-Brachymorphia Syndrome Spherophakia Brachymorphia Syndromes Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Mesodermal Dysmorphodystrophy, Congenital Dysmorphodystrophies, Congenital Mesodermal |
| 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 |
C1869115 C1869114 C0265313 |
| DC |
1 |
| definition |
Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations. |
| DX |
20100101 |
| FX |
D008382 |
| HN |
2010 |
| 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 |
2010 |
| MDA |
20090706 |
| MMR |
20150623 |
| MN |
C05.116.099.343.957 C16.320.290.842 C11.270.921 C17.300.899 C16.131.077.941 |
| notation |
D056846 |
| prefLabel |
Weill-Marchesani Syndrome |
| TERMUI |
T842679 T839579 T842680 T734985 T734981 T748782 T804442 T752773 T734980 T734982 T842681 T734979 |
| TH |
NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D015785 http://purl.bioontology.org/ontology/MESH/D000015 |