Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 Biomarker phenotype HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.100 Biomarker phenotype HPO
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423867
Disease: Fine hair
Fine hair 		0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0575802
Disease: Small hand
Small hand 		0.100 Biomarker phenotype HPO
CUI: C0576226
Disease: Short foot
Short foot 		0.100 Biomarker phenotype HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO