Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.100 Biomarker disease HPO
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		0.100 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		0.100 Biomarker phenotype HPO
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure 		0.100 Biomarker phenotype HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		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
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C1301937
Disease: Talipes
Talipes 		0.100 Biomarker disease HPO
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		0.100 Biomarker phenotype HPO
CUI: C1833144
Disease: Slender long bone
Slender long bone 		0.100 Biomarker phenotype HPO
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 Biomarker phenotype HPO
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.100 Biomarker disease HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		0.100 Biomarker phenotype HPO
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0.100 Biomarker phenotype HPO