Details of Disease | DrugMAP

General Information of Disease (ID: DISZZRHN)

Disease Name	Leukodystrophy, hypomyelinating, 20
Synonyms	HLD20
Disease Hierarchy	DISVY1TT: Leukodystrophy DISZZRHN: Leukodystrophy, hypomyelinating, 20
Disease Identifiers	MONDO ID MONDO_0033657 UMLS CUI C5436730 OMIM ID 619071 MedGen ID 1765130

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
CNP	TT71P0H	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNP	OTB8HCED	Limited	Unknown	[1]
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References

1	CNP deficiency causes severe hypomyelinating leukodystrophy in humans. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3.