Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker disease HPO
CUI: C0241165
Disease: Thick skin
Thick skin
0.100 Biomarker phenotype HPO
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
0.100 Biomarker disease HPO
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose
0.100 Biomarker phenotype HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased
0.100 Biomarker phenotype HPO
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow
0.100 Biomarker phenotype HPO
CUI: C1833144
Disease: Slender long bone
Slender long bone
0.100 Biomarker phenotype HPO
CUI: C1835884
Disease: Triangular face
Triangular face
0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
0.100 Biomarker phenotype HPO
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
0.100 Biomarker phenotype HPO
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
0.100 Biomarker phenotype HPO
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.100 GeneticVariation phenotype CLINVAR
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening
0.100 Biomarker disease HPO
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
0.100 Biomarker phenotype HPO
CUI: C1861324
Disease: Short philtrum
Short philtrum
0.100 Biomarker phenotype HPO
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure
0.100 Biomarker phenotype HPO