Details of Disease | DrugMAP

General Information of Disease (ID: DISQ9APO)

Disease Name	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Disease Hierarchy	DISZUK5W: Hypertrichosis DISQ9APO: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Disease Identifiers	MONDO ID MONDO_0018777 UMLS CUI C5568802 MedGen ID 1800225 Orphanet ID 476119 SNOMED CT ID 1187115008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SHH	TTIENCJ	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SHH	OTOG2BXF	Supportive	Autosomal dominant	[1]
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References

1	The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. Eur J Hum Genet. 2016 Jan;24(1):37-43. doi: 10.1038/ejhg.2015.53. Epub 2015 Mar 18.