Short stature, microcephaly, poikiloderma and skeletal abnormalities (rothmund thomson like)

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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, microcephaly, poikiloderma and skeletal abnormalities (Rothmund Thomson like)
MONDO_0014347
CRIPT Unknown
24389050 27250922 36630262 37013901
Open Targets —
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Short stature, microcephaly, poikiloderma and skeletal abnormalities (rothmund thomson like).
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Short stature with microcephaly and distinctive facies 1 shared geneCRIPT Related via 1 shared gene including CRIPT. Rothmund-thomson syndrome 1 shared geneCRIPT Related via 1 shared gene including CRIPT. Hypertensive nephropathy 1 shared geneCRIPT Related via 1 shared gene including CRIPT. Pituitary dwarfism 1 shared geneCRIPT Related via 1 shared gene including CRIPT. Desbuquois syndrome 1 shared geneCRIPT Related via 1 shared gene including CRIPT.