Details of Disease

General Information of Disease (ID: DISS6JO0)

Disease Name Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISS6JO0: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Disease Identifiers
MONDO ID
MONDO_0859189
UMLS CUI
C5561980
OMIM ID
619518
MedGen ID
1794190

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
GGPS1 OTVEHG28 Strong Autosomal recessive [1]
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References

1 Knockdown of Ggps1 in chondrocyte expedites fracture healing by accelerating the progression of endochondral ossification in mice. J Bone Miner Metab. 2018 Mar;36(2):133-147. doi: 10.1007/s00774-017-0824-9. Epub 2017 Mar 29.