Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Weill–Marchesani_syndrome> ?p ?o. }
Showing items 1 to 29 of
29
with 100 items per page.
- Weill–Marchesani_syndrome abstract "Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare, genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It has been named after ophthalmologists Georges Weill (1866-1952) and Oswald Marchesani (1900-1952) who first described it in 1932 and 1939, respectively.The eye manifestations typically include unusually small, round lenses of the eyes (spherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Researchers suggest that Weill–Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance.".
- Weill–Marchesani_syndrome thumbnail Marchesani2.gif?width=300.
- Weill–Marchesani_syndrome wikiPageID "16390475".
- Weill–Marchesani_syndrome wikiPageRevisionID "592236008".
- Weill–Marchesani_syndrome alt "Image of a six year old female with Weill-Marchesani syndrome.".
- Weill–Marchesani_syndrome caption "A six year old female with Weill-Marchesani syndrome, which has caused a dislocated lens.".
- Weill–Marchesani_syndrome diseasesdb "29897".
- Weill–Marchesani_syndrome icd "759.89".
- Weill–Marchesani_syndrome name "Weill–Marchesani syndrome".
- Weill–Marchesani_syndrome omim "608328".
- Weill–Marchesani_syndrome subject Category:Cytoskeletal_defects.
- Weill–Marchesani_syndrome subject Category:Diseases_of_the_eye_and_adnexa.
- Weill–Marchesani_syndrome subject Category:Syndromes.
- Weill–Marchesani_syndrome type Disease.
- Weill–Marchesani_syndrome type Situation.
- Weill–Marchesani_syndrome comment "Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare, genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities.".
- Weill–Marchesani_syndrome label "Sindrome di Weill-Marchesani".
- Weill–Marchesani_syndrome label "Síndrome Weill–Marchesani".
- Weill–Marchesani_syndrome label "Weill–Marchesani syndrome".
- Weill–Marchesani_syndrome label "Zespół Weilla-Marchesaniego".
- Weill–Marchesani_syndrome label "Синдром Маркезани".
- Weill–Marchesani_syndrome sameAs Weill%E2%80%93Marchesani_syndrome.
- Weill–Marchesani_syndrome sameAs Síndrome_Weill–Marchesani.
- Weill–Marchesani_syndrome sameAs Sindrome_di_Weill-Marchesani.
- Weill–Marchesani_syndrome sameAs Zespół_Weilla-Marchesaniego.
- Weill–Marchesani_syndrome sameAs Q3961695.
- Weill–Marchesani_syndrome sameAs Q3961695.
- Weill–Marchesani_syndrome wasDerivedFrom Weill–Marchesani_syndrome?oldid=592236008.
- Weill–Marchesani_syndrome depiction Marchesani2.gif.
