Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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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 (see these terms).
ID

http://www.orpha.net/ORDO/Orphanet_228184
alternative_term

Atriodigital dysplasia
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 (see these terms).
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=228184
label

Heart-hand syndrome
notation

ORPHA:228184

Category
prefixIRI

ORDO:Orphanet_228184
prefLabel

Heart-hand syndrome
subClassOf

http://www.orpha.net/ORDO/Orphanet_364568

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_109009

http://www.orpha.net/ORDO/Orphanet_404577

http://www.orpha.net/ORDO/Orphanet_404571
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