Details of Disease | DrugMAP

General Information of Disease (ID: DISS2UEJ)

Disease Name	Woolly hair-skin fragility syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISS2UEJ: Woolly hair-skin fragility syndrome
Disease Identifiers	MONDO ID MONDO_0957307 MESH ID C564359 UMLS CUI C1843292 OMIM ID 620415 MedGen ID 375148

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUFT1	OT1ZNSV0	Strong	Autosomal recessive	[1]
DSP	OTB2MOP8	Strong	Biomarker	[2]
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References

1	Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.
2	Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. Pediatr Cardiol. 2019 Jun;40(5):950-957. doi: 10.1007/s00246-019-02096-1. Epub 2019 Apr 16.