Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0813217
Disease: Expressionless face
Expressionless face 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		0.100 Biomarker phenotype HPO
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1856507
Disease: Bulbar signs
Bulbar signs 		0.100 Biomarker phenotype HPO
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		0.100 Biomarker phenotype HPO
CUI: C2242577
Disease: Oromandibular dystonia
Oromandibular dystonia 		0.100 Biomarker phenotype HPO
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.100 Biomarker phenotype HPO
CUI: C2938912
Disease: Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.100 Biomarker phenotype HPO
CUI: C4021624
Disease: Osteosclerosis of the base of the skull
Osteosclerosis of the base of the skull 		0.100 Biomarker phenotype HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO