Experimental Factor Ontology

Last uploaded: November 18, 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.
ID

http://purl.obolibrary.org/obo/MONDO_0016432
database_cross_reference

Orphanet:228184

GARD:20573
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.
exactMatch

http://purl.obolibrary.org/obo/Orphanet_228184
has_exact_synonym

atriodigital dysplasia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751
id

MONDO:0016432
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label

heart-hand syndrome
notation

MONDO:0016432
preferred label

heart-hand syndrome
prefLabel

heart-hand syndrome
subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0018234

http://purl.obolibrary.org/obo/MONDO_0019054

http://purl.obolibrary.org/obo/MONDO_0002254
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