Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.100 Biomarker disease HPO
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.100 Biomarker phenotype HPO
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		0.100 Biomarker disease HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		0.100 Biomarker phenotype HPO
CUI: C0349702
Disease: Corneal Scar
Corneal Scar 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.100 Biomarker disease HPO
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		0.100 Biomarker phenotype HPO
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		0.100 Biomarker phenotype HPO
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
Postural hypotension with compensatory tachycardia 		0.100 Biomarker phenotype HPO
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		0.100 Biomarker phenotype HPO
CUI: C1852289
Disease: Autoamputation of digits
Autoamputation of digits 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		0.100 Biomarker phenotype HPO
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		0.100 Biomarker phenotype HPO
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.100 Biomarker disease HPO
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		0.100 Biomarker disease HPO
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva 		0.100 Biomarker disease HPO