loading...| Preferred Name | Weill-Marchesani syndrome | |
| Synonyms |
mesodermal dysmorphodystrophy congenital WM syndrome WMS spherophakia brachymorphia syndrome Marchesani-Weill syndrome mesodermal Dysmorphodystrophy, congenital congenital mesodermal dystrophy spherophakia-brachymorphia syndrome Weill Marchesani Syndrome |
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| Definitions |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018096 |
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| database_cross_reference |
ICD9:759.89 NCIT:C85226 UMLS:C0265313 MESH:D056846 MEDGEN:82705 SCTID:2884008 MedDRA:10064963 OMIMPS:277600 Orphanet:3449 DOID:0050475 GARD:4936 NORD:1842 |
|
| definition |
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. |
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| has_exact_synonym |
spherophakia brachymorphia syndrome Marchesani-Weill syndrome mesodermal Dysmorphodystrophy, congenital congenital mesodermal dystrophy spherophakia-brachymorphia syndrome Weill Marchesani Syndrome |
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| has_related_synonym |
mesodermal dysmorphodystrophy congenital WM syndrome WMS |
|
| id |
MONDO:0018096 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar 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_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Weill-Marchesani syndrome |
|
| notation |
MONDO:0018096 |
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| preferred label |
Weill-Marchesani syndrome |
|
| prefLabel |
Weill-Marchesani syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0050475 http://identifiers.org/mesh/D056846 http://linkedlifedata.com/resource/umls/id/C0265313 http://identifiers.org/medgen/82705 http://identifiers.org/snomedct/2884008 http://purl.obolibrary.org/obo/NCIT_C85226 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0015161 |
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| excluded_subClassOf |