Short stature-optic atrophy-pelger-huc+t anomaly syndrome

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Subtype of: Short stature
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
MONDO_0013889
NBAS Unknown
20577004 34110364 28115293 36479642
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Short stature-optic atrophy-pelger-huc+t anomaly syndrome.
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Short stature, optic nerve atrophy, pelger-huet anomaly and/or infantile liver failure 1 shared geneNBAS Related via 1 shared gene including NBAS. Bone fragility 1 shared geneNBAS Related via 1 shared gene including NBAS. Male reproductive organ cancer 1 shared geneNBAS Related via 1 shared gene including NBAS. Pituitary stalk interruption syndrome 1 shared geneNBAS Related via 1 shared gene including NBAS. Bone fragility with contractures, arterial rupture, and deafness 1 shared geneNBAS Related via 1 shared gene including NBAS.