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Mondo Disease Ontology
| Preferred Name | heart-hand syndrome, Slovenian type | |
| Synonyms |
atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
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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 |
MEDGEN:341859 OMIM:610140 icd11.foundation:1814304618 GARD:9846 UMLS:C1857829 Orphanet:168796 SCTID:721014007 MESH:C535852
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|
| 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.
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| has_exact_synonym |
atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
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|
| id |
MONDO:0012417
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
heart-hand syndrome, Slovenian type
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|
| notation |
MONDO:0012417
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| prefLabel |
heart-hand syndrome, Slovenian type
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type |
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| skos_exactMatch |
http://identifiers.org/medgen/341859 http://identifiers.org/mesh/C535852 http://linkedlifedata.com/resource/umls/id/C1857829 http://purl.obolibrary.org/obo/Orphanet_168796 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1814304618 |
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