Details of Disease

General Information of Disease (ID: DIS2C8IX)

Disease Name Hypotrichosis-lymphedema-telangiectasia syndrome
Synonyms HLTS; hypotrichosis-lymphedema-telangiectasia syndrome
Disease Hierarchy
DISTB4GU: Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
DIS4D8VL: Lymphatic malformation
DIS2C8IX: Hypotrichosis-lymphedema-telangiectasia syndrome
Disease Identifiers
MONDO ID
MONDO_0011914
UMLS CUI
C1843004
OMIM ID
607823
MedGen ID
375070

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
SOX18 OTPUMHWA Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.