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loading...| Preferred Name |
Chondroectodermal_Dysplasia |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Chondroectodermal_Dysplasia |
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| ID |
C84684 |
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| NCI_Definition |
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. |
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| NCI_PT |
Ellis-Van Creveld Syndrome |
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| NICHD_Definition |
_ |
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| prefixIRI |
Chondroectodermal_Dysplasia |
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| prefLabel |
Chondroectodermal_Dysplasia |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Genetic_Disorder |
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