Details of Disease

General Information of Disease (ID: DIS2DH99)

Disease Name Noonan syndrome-like disorder with loose anagen hair 2
Synonyms NSLH2; Noonan syndrome-like disorder with loose anagen hair 2
Disease Hierarchy
DISWMZIV: Noonan syndrome-like disorder with loose anagen hair
DIS2DH99: Noonan syndrome-like disorder with loose anagen hair 2
Disease Identifiers
MONDO ID
MONDO_0054588
UMLS CUI
C4479577
OMIM ID
617506
MedGen ID
1376945

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
PPP1CB OTYFTYFR Strong Autosomal dominant [1]
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References

1 A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone. Am J Med Genet A. 2020 Aug;182(8):1967-1971. doi: 10.1002/ajmg.a.61638. Epub 2020 Jun 1.