Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		0.100 Biomarker disease HPO
CUI: C0162275
Disease: Ketonuria
Ketonuria 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.100 Biomarker phenotype HPO
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		0.100 Biomarker phenotype HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1306893
Disease: Anomaly of placenta
Anomaly of placenta 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.100 Biomarker phenotype HPO
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		0.100 Biomarker phenotype HPO
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.100 Biomarker phenotype HPO
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		0.100 Biomarker phenotype HPO
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		0.100 Biomarker phenotype HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		0.100 Biomarker phenotype HPO
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.100 Biomarker phenotype HPO
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.100 Biomarker phenotype HPO