loading...| Preferred Name |
Ellis-van Creveld syndrome |
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| Synonyms |
EVC |
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| Definitions |
(EVC) - An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. |
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| ID |
http://identifiers.org/omim/225500 |
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| altLabel |
EVC |
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| definition |
(EVC) - An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. |
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| id |
OMIM:225500 |
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| notation |
OMIM:225500 |
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| prefLabel |
Ellis-van Creveld syndrome |
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| subClassOf |