Preferred Name | multiple synostoses syndrome | |
Synonyms |
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Definitions |
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. |
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ID |
http://purl.obolibrary.org/obo/DOID_0050794 |
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created by |
lschriml |
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creation_date |
2013-11-12T01:08:42Z |
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database_cross_reference |
MIM:PS186500 ORDO:3237 |
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definition |
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
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id |
DOID:0050794 |
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in_subset | ||
label |
multiple synostoses syndrome |
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notation |
DOID:0050794 |
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note |
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. |
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preferred label |
multiple synostoses syndrome |
|
prefLabel |
multiple synostoses syndrome |
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subClassOf |