loading...| Preferred Name |
heart-hand syndrome, Slovenian type |
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| 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 |
OMIM:610140 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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| disease has feature | ||
| exactMatch |
http://identifiers.org/mesh/C535852 http://linkedlifedata.com/resource/umls/id/C1857829 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
atriodigital dysplasia, Slovenian type heart-hand syndrome, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome |
|
| id |
MONDO:0012417 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
heart-hand syndrome, Slovenian type |
|
| 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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| treeView | ||
| excluded subClassOf | ||
| subClassOf |