loading...| Preferred Name | congenital heart malformation | |
| Synonyms |
rare congenital non-syndromic heart malformation congenital non-syndromic heart malformation disorder of heart development congenital heart malformation heart development disease |
|
| Definitions |
A disease that has its basis in the disruption of heart development. any structural anomly of the heart that is present from birth |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0005269 |
|
| database_cross_reference |
OMIM:306955 MONDO:0019512 OMIM:614980 UMLS:C3649636 Orphanet:88991 MEDGEN:1680993 ICD10:Q20 ICD10:Q24 |
|
| definition |
A disease that has its basis in the disruption of heart development. any structural anomly of the heart that is present from birth |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_88991 http://purl.obolibrary.org/obo/EFO_0005269 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
disorder of heart development congenital heart malformation heart development disease |
|
| has_related_synonym |
rare congenital non-syndromic heart malformation congenital non-syndromic heart malformation |
|
| id |
EFO:0005269 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
congenital heart malformation |
|
| notation |
EFO:0005269 |
|
| preferred label |
congenital heart malformation |
|
| prefLabel |
congenital heart malformation |
|
| term editor |
Dani Welter |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0005269 | CCONT | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_11884 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019512 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019512 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019512 | KTAO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019512 | OBA | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0005269 | CCONT | LOOM |