loading...| Preferred Name |
heart-hand syndrome, Slovenian type |
|
| Synonyms |
heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome atriodigital dysplasia, Slovenian type |
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| Definitions |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012417 |
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| database_cross_reference |
OMIM:610140 Orphanet:168796 SCTID:721014007 UMLS:C1857829 MESH:C535852 GARD:9846 |
|
| definition |
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. |
|
| exactMatch |
http://identifiers.org/mesh/C535852 http://linkedlifedata.com/resource/umls/id/C1857829 |
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| has_exact_synonym |
heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome atriodigital dysplasia, Slovenian type |
|
| id |
MONDO:0012417 |
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| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
heart-hand syndrome, Slovenian type |
|
| notation |
MONDO:0012417 |
|
| prefLabel |
heart-hand syndrome, Slovenian type |
|
| see also |
https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type |
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| subClassOf | ||
| excluded_subClassOf |