Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker phenotype HPO
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.100 Biomarker phenotype HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO