Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0033999
Disease: Pterygium
Pterygium 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0038450
Disease: Stridor
Stridor 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0085619
Disease: Orthopnea
Orthopnea 		0.100 Biomarker phenotype HPO
CUI: C0085623
Disease: Akinesia
Akinesia 		0.100 Biomarker disease HPO
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.100 Biomarker phenotype HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 Biomarker phenotype HPO
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		0.100 Biomarker disease HPO
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		0.100 Biomarker phenotype HPO
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.100 Biomarker phenotype HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.100 Biomarker disease HPO
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0.100 Biomarker phenotype HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0266786
Disease: Short cord
Short cord 		0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO