Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241577
Disease: Elevated urinary catecholamines
Elevated urinary catecholamines 		0.100 Biomarker phenotype HPO
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		0.100 Biomarker disease HPO
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		0.100 CausalMutation disease CLINVAR
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward 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: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1834034
Disease: Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Aplasia/Hypoplasia of the middle phalanx of the 5th finger 		0.100 Biomarker phenotype HPO
CUI: C1835884
Disease: Triangular face
Triangular face 		0.100 Biomarker phenotype HPO
CUI: C1836195
Disease: Short toe
Short toe 		0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 Biomarker phenotype HPO
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0.100 Biomarker phenotype HPO
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		0.100 Biomarker phenotype HPO
CUI: C1856659
Disease: Polysplenia
Polysplenia 		0.100 Biomarker disease HPO
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.100 CausalMutation phenotype CLINVAR
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.100 Biomarker phenotype HPO
CUI: C1859717
Disease: Depressed nasal tip
Depressed nasal tip 		0.100 Biomarker phenotype HPO