| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Abnormal dermatoglyphic pattern |
Abnormal dermatoglyphic pattern |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Acrocephaly |
Acrocephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adenomatous Polyposis Coli |
Multiple polyposis syndrome |
BEFREE |
30511962 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Aortic Aneurysm |
Aortic Aneurysm |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Astigmatism |
Astigmatism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atrial Septal Defects |
Atrial Septal Defect |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bicuspid aortic valve |
Bicuspid aortic valve |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Bone Diseases Developmental |
Bone disease |
Pubtator |
29100094 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
21246238 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Neoplasms |
Breast neoplasm |
Pubtator |
18381931, 37277882 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Carcinoma Intraductal Noninfiltrating |
Intraductal noninfiltrating carcinoma |
Pubtator |
18769130 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Central Nervous System Neoplasms |
Central Nervous System Neoplasms |
GWASDB_DG |
19578366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebellar Hypoplasia |
Cerebellar Hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Class III malocclusion |
Malocclusion |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Carcinoma |
Colorectal Cancer |
BEFREE |
30511962, 30746785 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colorectal Neoplasms |
Colorectal neoplasm |
Pubtator |
34174878 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conduct Disorder |
Conduct disorder |
Pubtator |
34561420 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Conductive hearing loss |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital absent nipple |
Congenital Absent Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital craniofacial dysostosis |
Congenital craniofacial dysostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital exomphalos |
Congenital Exomphalos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Heart Defects |
Congenital heart defects |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital hypoplasia of lung |
Pulmonary hypoplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Coronal craniosynostosis |
Coronal craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostoses |
Craniosynostosis |
Pubtator |
29100093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Craniosynostosis |
Craniosynostosis |
BEFREE |
29100093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cryptorchidism |
Cryptorchidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Defect of skull ossification |
Defect Of Skull Ossification |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dwarfism |
Dwarfism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Exophthalmos |
Proptosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Glioma |
Glioma |
GWASDB_DG |
19578366 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gorlin Chaudhry Moss syndrome |
Gorlin Chaudhry Moss Syndrome |
BEFREE |
29100093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gorlin Chaudhry Moss syndrome |
Gorlin Chaudhry Moss Syndrome |
ORPHANET_DG |
29100093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gorlin-Chaudhry-Moss syndrome |
Gorlin Chaudhry Moss Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydrocephalus |
Hydrocephalus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hyperopia |
Hyperopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
BEFREE |
29100093 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
Hypertrichosis |
Pubtator |
29100093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypertrichosis |
HYPERTRICHOSIS |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypodontia |
Hypodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of corpus callosum |
Hypoplasia Of Corpus Callosum |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of nipple |
Hypoplasia Of Nipple |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hypoplasia of the maxilla |
Hypoplasia of the maxilla |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Idiopathic pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Left Ventricular Hypertrophy |
Left Ventricular Hypertrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipoatrophy |
Lipoatrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lipodystrophy |
Lipodystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
21246238 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Metabolic Diseases |
Metabolic syndrome |
Pubtator |
29100094 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microdontia (disorder) |
Microdontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Micrognathism |
Micrognathism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microphthalmos |
Microphthalmos |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microstomia |
Microstomia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mitochondrial Diseases |
Mitochondrial disease |
Pubtator |
29100093 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nystagmus |
Nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Oligodontia |
Oligodontia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Osteonecrosis |
Osteonecrosis |
Pubtator |
31686588 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Patent ductus arteriosus |
Patent ductus arteriosus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Penis agenesis |
Penis Agenesis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Periventricular Nodular Heterotopia |
Periventricular Nodular Heterotopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Petty Laxova Wiedemann syndrome |
Petty Laxova Wiedemann Syndrome |
ORPHANET_DG |
29100094 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Posteriorly rotated ear |
Posteriorly Rotated Ear |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progeroid syndrome, Petty type |
Progeroid Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Pulmonary arterial hypertension |
Pulmonary arterial hypertension |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sclerocornea |
Sclerocornea |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Scoliosis, unspecified |
Scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Shagreen patch |
Shagreen patch |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Synophrys |
Synophrys |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tricuspid Valve Insufficiency |
Tricuspid Valve Insufficiency |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |