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Mondo Disease Ontology
| Preferred Name | heart-hand syndrome | |
| Synonyms |
atriodigital dysplasia |
|
| Definitions |
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016432 |
|
| database_cross_reference |
GARD:20573 Orphanet:228184
|
|
| definition |
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.
|
|
| has_exact_synonym |
atriodigital dysplasia
|
|
| IAO_0000233 | ||
| id |
MONDO:0016432
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
heart-hand syndrome
|
|
| notation |
MONDO:0016432
|
|
| prefLabel |
heart-hand syndrome
|
|
| skos_exactMatch | ||
| treeView |
http://purl.obolibrary.org/obo/MONDO_0018234 http://purl.obolibrary.org/obo/MONDO_0019054 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018234 http://purl.obolibrary.org/obo/MONDO_0019054 |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0016432 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0016432 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0016432 | DOVES | SAME_URI |
| http://www.orpha.net/ORDO/Orphanet_228184 | ORDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016432 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016432 | EFO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016432 | DOVES | LOOM |
| http://www.limics.org/hrdo/rdfns#pat_id_19079 | HRDO | LOOM |
| rgo:27986 | GAMUTS | LOOM |