Weill-Marchesani syndrome
(Q3961695)
autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities
autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities
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Current Data About
Weill-Marchesani syndrome
| (P31) |
(Q929833)
(Q112193867) |
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| (P279) |
(Q18553442)
(Q179630)
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| (P373) |
Weill–Marchesani syndrome
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| (P1748) |
C85226
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| (P1995) |
(Q161437)
(Q327657) (Q1071953) |
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| (P2293) |
(Q18047097)
(Q18028695)
(Q17509718)
(Q17927651)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0050475
http://identifiers.org/doid/DOID:0050475
http://www.orpha.net/ORDO/Orphanet_3449 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy WMS1 Weill-Marchesani Syndrome, Autosomal Recessive WEILL-MARCHESANI SYNDROME 1 Weill-Marchesani Syndrome type 1 WEILL-MARCHESANI SYNDROME 1; WMS1 Spherophakia-Brachymorphia Syndrome Marchesani syndrome |
| description | autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities |
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