Details of Disease

General Information of Disease (ID: DISMD8J7)

Disease Name Ectodermal dysplasia 15, hypohidrotic/hair type
Synonyms ECTD15; ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISMD8J7: Ectodermal dysplasia 15, hypohidrotic/hair type
Disease Identifiers
MONDO ID
MONDO_0032804
UMLS CUI
C5193145
OMIM ID
618535
MedGen ID
1680605

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
CST6 OTZVHJTF Strong Autosomal recessive [1]
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References

1 Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med. 2019 Jul;21(7):1559-1567. doi: 10.1038/s41436-018-0355-3. Epub 2018 Nov 14.