Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies 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, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)
MONDO_0011227
GSC Unknown
12116210 1677215 1684739 24290375 7555718 7916327 8597641 9144415 9475592
Open Targets —
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
MONDO_0011227
GSC Causal
8597641 9144415 24290375 9475592 12116210 1677215 1684739 7916327 7555718
Open Targets —
All1 Causal1 Unknown1
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Craniofacial abnormalities 1 shared geneGSC Related via 1 shared gene including GSC. Hypertrophic cardiomyopathy 1 shared geneGSC Related via 1 shared gene including GSC. Androgenetic alopecia 1 shared geneGSC Related via 1 shared gene including GSC. Desbuquois syndrome 1 shared geneGSC Related via 1 shared gene including GSC.