Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.100 Biomarker disease HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.100 Biomarker group HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 Biomarker disease HPO
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype 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: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		0.100 Biomarker phenotype HPO
CUI: C1853241
Disease: Flat face
Flat face 		0.100 Biomarker phenotype HPO