Heart-hand syndrome, slovenian type

Preferred Label : Heart-hand syndrome, slovenian type;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0045);

Prefixed ID : #610140;

Details

Origin ID

610140;

UMLS CUI

C1857829;

CISMeF manual mappings
- Heart-hand syndrome Slovenian type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Heart-hand syndrome, Slovenian type [ICD-11 More detail]
- Heart-hand syndrome, Slovenian type [MeSH concept]
- Heart-hand syndrome, Slovenian type [ORDO Disease]
- heart-hand syndrome, slovenian type [MeSH Supplementary Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Aplasia of the middle phalanx of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Clinodactyly [HPO term]
- Dilated cardiomyopathy [HPO term]
- Myopathy [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Heart-hand syndrome, Slovenian type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heart-hand syndrome Slovenian type (disorder) [SNOMED CT concept]
- Heart-hand syndrome, Slovenian type [ORDO Disease]
- Heart-hand syndrome, Slovenian type [MeSH concept]
- heart-hand syndrome, slovenian type [MeSH Supplementary Concept]

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