Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.100 Biomarker phenotype HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1836047
Disease: Long face
Long face 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1837463
Disease: Narrow face
Narrow face 		0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		0.100 Biomarker phenotype HPO
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.100 Biomarker phenotype HPO
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C4021538
Disease: Mild neurosensory hearing impairment
Mild neurosensory hearing impairment 		0.100 Biomarker disease HPO
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		0.100 Biomarker phenotype HPO
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe 		0.100 Biomarker disease HPO
CUI: C4024664
Disease: Moderate sensorineural hearing impairment
Moderate sensorineural hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 Biomarker disease HPO