loading...| Preferred Name | Weill-Marchesani Syndrome | |
| Synonyms |
Weill Marchesani Syndrome, Autosomal Recessive GEMSS Spherophakia Brachymorphia Syndromes Weill-Marchesani Syndrome, Autosomal Dominant Dysmorphodystrophy, Congenital Mesodermal Weill-Marchesani Syndrome, Autosomal Recessive Spherophakia-Brachymorphia Syndrome Syndromes, Spherophakia Brachymorphia Weill Marchesani Syndrome, Autosomal Dominant Dysmorphodystrophies, Congenital Mesodermal Marchesani Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Marchesani Syndrome Syndrome, Spherophakia Brachymorphia Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Congenital Mesodermal Dysmorphodystrophies Weill Marchesani Syndrome Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Mesodermal Dysmorphodystrophies, Congenital Marchesani-Weill Syndromes |
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| Definitions |
The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations. The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. 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 |
Weill Marchesani Syndrome, Autosomal Recessive GEMSS Spherophakia Brachymorphia Syndromes Weill-Marchesani Syndrome, Autosomal Dominant Dysmorphodystrophy, Congenital Mesodermal Weill-Marchesani Syndrome, Autosomal Recessive Spherophakia-Brachymorphia Syndrome Syndromes, Spherophakia Brachymorphia Weill Marchesani Syndrome, Autosomal Dominant Dysmorphodystrophies, Congenital Mesodermal Marchesani Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Marchesani Syndrome Syndrome, Spherophakia Brachymorphia Marchesani-Weill Syndrome Spherophakia Brachymorphia Syndrome Congenital Mesodermal Dysmorphodystrophy Congenital Mesodermal Dysmorphodystrophies Weill Marchesani Syndrome Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome Mesodermal Dysmorphodystrophies, Congenital Marchesani-Weill Syndromes |
|
| 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 |
C1869114 C1869115 C0265313 |
|
| DC |
1 |
|
| definition |
The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations. The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations. 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. |
|
| DX |
20100101 |
|
| FX |
D008382 |
|
| HN |
2010 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Inverse of RO | ||
| Machine permutation |
2010 |
|
| MDA |
20090706 |
|
| MMR |
20150623 |
|
| MN |
C17.300.899 C05.116.099.343.957 C16.131.077.941 C16.320.290.842 C11.270.921 |
|
| notation |
D056846 |
|
| prefLabel |
Weill-Marchesani Syndrome |
|
| TERMUI |
T842680 T842681 T734982 T734979 T752773 T734980 T842679 T734981 T804442 T839579 T734985 T748782 |
|
| TH |
OMIM (2013) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D000015 |