Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 CausalMutation disease CLINVAR
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease CTD_human
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		0.100 Biomarker phenotype HPO
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.100 Biomarker disease HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		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: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1858430
Disease: Death in infancy
Death in infancy 		0.100 Biomarker phenotype HPO
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO