Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 Biomarker disease CTD_human
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.410 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.400 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO
CUI: C0685786
Disease: Cleft mandible
Cleft mandible 		0.400 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		0.100 Biomarker disease HPO
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		0.100 Biomarker phenotype HPO
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.100 Biomarker disease HPO
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		0.100 Biomarker phenotype HPO
CUI: C1849350
Disease: Cleft lower alveolar ridge
Cleft lower alveolar ridge 		0.100 Biomarker phenotype HPO
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.100 Biomarker phenotype HPO