Details of Disease

General Information of Disease (ID: DIS7MDS3)

Disease Name Heart defect - tongue hamartoma - polysyndactyly syndrome
Synonyms
Orstavik Lindemann Solberg syndrome; CHDTHP; congenital heart defects, hamartomas of tongue, and polysyndactyly; heart defect, tongue hamartoma and polysyndactyly; Ostravik-Lindemann-Solberg syndrome; heart defect - tongue hamartoma - polysyndactyly syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DIS7MDS3: Heart defect - tongue hamartoma - polysyndactyly syndrome
Disease Identifiers
MONDO ID
MONDO_0009008
MESH ID
C537137
UMLS CUI
C1857587
OMIM ID
217085
MedGen ID
341804
Orphanet ID
1338

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDPCP OT0HF6PJ Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.