loading...| Preferred Name |
Ellis-van Creveld syndrome |
|
| Synonyms |
Ellis-van Creveld syndrome Chondroectodermal dysplasia mesodermic dysplasia Mesoectodermal dysplasia Ellis-VAN Creveld syndrome Ellis Van Creveld syndrome EVC |
|
| Definitions |
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009162 |
|
| database_cross_reference |
ICD10:Q77.6 NCIT:C84684 OMIM:225500 UMLS:C0013903 GARD:0001301 MESH:D004613 MedDRA:10008724 ICD9:756.55 SCTID:62501005 DOID:12714 UMLS:CN239258 Orphanet:289 |
|
| exactMatch |
http://identifiers.org/meddra/10008724 http://identifiers.org/snomedct/62501005 http://identifiers.org/mesh/D004613 http://linkedlifedata.com/resource/umls/id/C0013903 http://linkedlifedata.com/resource/umls/id/CN239258 http://identifiers.org/omim/225500 http://purl.obolibrary.org/obo/NCIT_C84684 |
|
| excluded from QC check |
http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql |
|
| has exact synonym |
Ellis-van Creveld syndrome Chondroectodermal dysplasia mesodermic dysplasia |
|
| has related synonym |
Mesoectodermal dysplasia Ellis-VAN Creveld syndrome Ellis Van Creveld syndrome EVC |
|
| id |
MONDO:0009162 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#gard_rare http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Ellis-van Creveld syndrome |
|
| notation |
MONDO:0009162 |
|
| prefLabel |
Ellis-van Creveld syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome |
|
| textual definition |
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015506 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0019287 http://purl.obolibrary.org/obo/MONDO_0018770 |