Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0039446
Disease: Telangiectasis
Telangiectasis
0.100 Biomarker disease HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios
0.100 Biomarker phenotype HPO
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
0.100 Biomarker phenotype HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.100 Biomarker disease HPO
CUI: C0239479
Disease: Round face
Round face
0.100 Biomarker phenotype HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0262374
Disease: Stricture of anus
Stricture of anus
0.100 Biomarker phenotype HPO
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
0.100 Biomarker phenotype HPO
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
0.100 Biomarker disease HPO
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
0.100 Biomarker disease HPO
CUI: C0266011
Disease: Accessory nipple
Accessory nipple
0.100 Biomarker disease HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome
0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
0.100 Biomarker disease HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye
0.100 Biomarker phenotype HPO
CUI: C0424688
Disease: Small head
Small head
0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
0.100 Biomarker phenotype HPO
Delayed speech and language development
0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay
0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck
0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
0.100 Biomarker group HPO