Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. 28132690 2017
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.110 Biomarker disease HPO
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.100 Biomarker disease HPO
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.100 Biomarker phenotype HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		0.100 Biomarker disease HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 Biomarker phenotype HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		0.100 Biomarker phenotype HPO
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		0.100 Biomarker phenotype HPO
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.100 Biomarker phenotype HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.100 Biomarker phenotype HPO