Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		0.100 Biomarker disease HPO
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		0.100 Biomarker phenotype HPO
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		0.100 Biomarker disease HPO
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		0.100 Biomarker disease HPO
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		0.100 Biomarker disease HPO
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		0.100 Biomarker disease HPO
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.100 Biomarker disease HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		0.100 Biomarker disease HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.100 Biomarker phenotype HPO
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum 		0.100 Biomarker disease HPO
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		0.100 Biomarker disease HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 Biomarker disease HPO
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		0.100 Biomarker phenotype HPO
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		0.100 CausalMutation disease CLINVAR
CUI: C1321884
Disease: Atresia of vagina
Atresia of vagina 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		0.100 Biomarker phenotype HPO
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		0.100 Biomarker phenotype HPO