| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Action Myoclonus-Renal Failure Syndrome |
Action Myoclonus-Renal Failure Syndrome |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Adrenal hyperplasia |
Adrenal hyperplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alternating hemiplegia of childhood |
Alternating Hemiplegia |
BEFREE |
28292732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Alternating hemiplegia of childhood |
Alternating hemiplegia of childhood |
Pubtator |
28292732 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ambiguous Genitalia |
Ambiguous Genitalia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| ANONYCHIA |
Anonychia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Arhinencephaly |
Arrhinencephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Attention deficit hyperactivity disorder |
Attention Deficit Hyperactivity Disorder |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Atypical Inclusion-Body Disease |
Inclusion-Body Disease |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Auditory neuropathy spectrum disorder |
Auditory neuropathy |
BEFREE |
24387994 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Autistic behavior |
Autism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal dominant non-syndromic sensorineural deafness type DFNA |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Autosomal recessive non-syndromic sensorineural deafness type DFNB |
Non-Syndromic Sensorineural Deafness |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachycephaly |
Brachycephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brachydactyly |
Brachydactyly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Brain Diseases |
Brain disease |
Pubtator |
24387994, 28292732, 29484035 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Breast Carcinoma |
Breast Carcinoma |
BEFREE |
29893377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Byzanthine arch palate |
High palate |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cataract |
Cataract |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral atrophy |
Cerebral Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cerebral Palsy |
Cerebral palsy |
Pubtator |
29484035 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Clinodactyly of the 5th finger |
Camptodactyly of fingers |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Colitis |
Colitis |
BEFREE |
16178876 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizure with impairment of consciousness |
Dyscognitive seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Complex partial seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital adrenal hyperplasia |
Congenital adrenal hyperplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital clubfoot |
Congenital Clubfoot |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Epicanthus |
Congenital Epicanthus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital Hypothyroidism |
Congenital Hypothyroidism |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Congenital nystagmus |
Congenital nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dandy-Walker Syndrome |
Dandy-Walker Syndrome |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Deafness |
Deafness |
Pubtator |
24387994, 30139988, 30245510, 32873933, 33095980 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| DEAFNESS, AUTOSOMAL DOMINANT 65 |
Deafness |
CLINVAR_DG |
24291220, 25769375, 27281533, 27502353, 28292732, 28428906, 29100083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 65 |
Deafness |
UNIPROT_DG |
24729539, 24729547 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 65 |
Deafness |
GENOMICS_ENGLAND_DG |
30139988 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL DOMINANT 65 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 86 |
Deafness |
GENOMICS_ENGLAND_DG |
24291220, 30139988 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 86 |
Deafness |
UNIPROT_DG |
24387994 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 86 |
Deafness |
CLINVAR_DG |
24387994, 25769375, 28292732, 28428906 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DEAFNESS, AUTOSOMAL RECESSIVE 86 |
Deafness |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Dentatorubral-Pallidoluysian Atrophy |
Dentatorubral Pallidoluysian Atrophy |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental Disabilities |
Developmental disability |
Pubtator |
30245510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Developmental regression |
Developmental regression |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Digitorenocerebral Syndrome |
Digitorenocerebral Syndrome |
GENOMICS_ENGLAND_DG |
20727515, 24291220, 30139988 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Digitorenocerebral Syndrome |
Digitorenocerebral Syndrome |
BEFREE |
24291220, 24729539, 24729547, 25169878, 25769375, 27259978, 27669036, 28003643, 30245510, 30335140, 30858606, 31226716 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Digitorenocerebral Syndrome |
Digitorenocerebral Syndrome |
CLINVAR_DG |
24291220, 25169651, 25769375, 28292732, 28428906 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Digitorenocerebral Syndrome |
Digitorenocerebral Syndrome |
UNIPROT_DG |
24291220 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Digitorenocerebral Syndrome |
Digitrenocerebral syndrome |
Pubtator |
24291220 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| DOORS syndrome |
DOORS Syndrome |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Double Outlet Right Ventricle |
Double Outlet Right Ventricle |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dysarthria |
Dysarthria |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Dystonia Disorders |
Dystonia |
BEFREE |
31257402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystrophia unguium |
Nail dystrophy |
BEFREE |
24729539, 27259978, 27541164, 30245510, 30335140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Dystrophia unguium |
Nail dystrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsia Partialis Continua |
Epilepsia Partialis Continua |
BEFREE |
28292732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies Myoclonic |
Myoclonic epilepsy |
Pubtator |
31112829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsies, Partial |
Epilepsy |
BEFREE |
20797691, 23343562, 23517570, 27502353 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy |
Epilepsy |
BEFREE |
23526554, 24387994, 25769375, 27259978, 27281533, 27502353, 27669036, 28707022, 29086067, 30858606, 31112829, 31257402 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epilepsy |
Epilepsy |
Pubtator |
24387994, 26802095, 30245510, 31112829, 33349335 |
Associate |
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Epilepsy Idiopathic Generalized |
Epilepsy |
Pubtator |
36374051 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
BEFREE |
20727515, 23343562, 23517570, 23526554, 25769375, 28292732 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
ORPHANET_DG |
20727515 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
UNIPROT_DG |
20727515, 20797691 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
GENOMICS_ENGLAND_DG |
20727515, 24291220 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
CLINVAR_DG |
25769375, 28292732, 28428906 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Myoclonic, Infantile |
Myoclonic Epilepsy |
CTD_human_DG |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, Partial, Motor |
Epilepsy |
BEFREE |
31257402 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, Rolandic |
Epilepsy |
CLINVAR_DG |
29358611 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer`s cramp |
Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer`S Cramp |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer`s cramp |
Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer`S Cramp |
CTD_human_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
BEFREE |
24387994, 25557349, 27281533, 30335140, 30680869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Epileptic encephalopathy |
Epileptic encephalopathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 |
Epileptic encephalopathy |
CLINVAR_DG |
24291220, 27281533, 27502353, 29100083 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 |
Epileptic encephalopathy |
GENOMICS_ENGLAND_DG |
20727515 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 |
Epileptic encephalopathy |
UNIPROT_DG |
23526554, 27541164 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 |
Epileptic encephalopathy |
CLINVAR_DG |
25769375, 28292732, 28428906 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Erythema Nodosum |
Erythema nodosum |
BEFREE |
26449790 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Familial infantile myoclonic epilepsy |
Myoclonic Epilepsy |
Orphanet |
|
|
★★★★★★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants) |
| Familial Progressive Myoclonic Epilepsy |
Myoclonic Epilepsy |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Febrile Convulsions |
Febrile seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Frontal bossing |
Frontal bossing |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Gastroesophageal reflux disease |
Gastroesophageal Reflux Disease |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Generalized myoclonic seizures |
Myoclonic Seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Global developmental delay |
Developmental Delay |
BEFREE |
27281533 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Global developmental delay |
Developmental Delay |
HPO_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Gonadal dysgenesis XX type deafness |
Gonadal Dysgenesis |
BEFREE |
27259978 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Disorders |
Headache |
Pubtator |
24387994 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hearing Loss |
Hearing loss |
Pubtator |
24387994, 24729539, 31112829, 33986365 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Hearing Loss Sensorineural |
Hearing loss |
Pubtator |
35580552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemifacial seizures |
Hemifacial seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hemiplegia, Crossed |
Hemiplegia |
BEFREE |
28292732 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Horizontal Nystagmus |
Horizontal nystagmus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hydronephrosis |
Hydronephrosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inborn Errors of Metabolism |
Inborn Errors Of Metabolism |
BEFREE |
31188934 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Infantile Spasm |
Infantile Spasms |
BEFREE |
24291220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
29182760 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Mental retardation |
BEFREE |
20797691, 23343562, 23526554, 25169878, 25422373, 30245510, 30335140, 30602030, 30858606 |
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
24729539, 30245510, 32873933 |
Associate |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Intellectual Disability |
Mental retardation |
HPO_DG |
|
|
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Language Disorders |
Language Disorders |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Lumbar scoliosis |
Lumbar scoliosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant migrating focal seizures of infancy |
Malignant migrating partial seizures of infancy |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
BEFREE |
29893377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
29893377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| May-White Syndrome |
May-White Syndrome |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mental Retardation |
Mental retardation |
BEFREE |
25422373, 30245510, 30335140, 30858606 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
Pubtator |
30245510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Microcephaly |
Microcephaly |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Mild Mental Retardation |
Mental retardation |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Moderate intellectual disability |
Mental retardation |
BEFREE |
25769375 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Movement Disorders |
Movement Disorders |
CLINVAR_DG |
24291220, 24387994, 24469796, 25169651, 25769375, 26207815, 27281533, 27541164, 28292732, 28428906, 28663785 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Movement Disorders |
Movement Disorders |
BEFREE |
31257402 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Myoclonic Epilepsies, Progressive |
Myoclonic epilepsy |
CTD_human_DG |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
Nail Diseases |
BEFREE |
24729539, 27259978, 27541164, 30245510, 30335140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 |
Nail Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nail dysplasia |
Nail dysplasia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
29893377 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nephrocalcinosis |
Nephrocalcinosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| nervous system disorder |
Nervous System Disorder |
BEFREE |
30335140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodevelopmental Disorders |
Neurodevelopmental Disorders |
BEFREE |
30680869 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nicolaides Baraitser syndrome |
Nicolaides Baraitser Syndrome |
BEFREE |
25169878 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nodular Sclerosis Classical Hodgkin Lymphoma |
Classical Hodgkin lymphoma |
BEFREE |
24729539 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Non-Convulsive Status Epilepticus |
Nonconvulsive status epilepticus |
BEFREE |
30108545 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
BEFREE |
24387994, 24729539, 24729547, 27281533, 30245510 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nonsyndromic Deafness |
Nonsyndromic Deafness |
CLINGEN_DG |
24729539, 24729547 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy |
Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Optic Atrophy, Hereditary, Leber |
Hereditary Leber Optic Atrophy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinsonian Disorders |
Parkinson Disease |
CLINVAR_DG |
27541164 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| periodic paralysis (finding) |
Periodic Paralysis |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Nervous System Diseases |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Photosensitive tonic-clonic seizures |
Photosensitive tonic-clonic seizures |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polymicrogyria |
Polymicrogyria |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polyneuropathy |
Polyneuropathy |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia |
Proteasome-associated autoinflammatory syndrome |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Progressive myoclonic epilepsy with dystonia |
Progressive Myoclonic Epilepsy With Dystonia |
ORPHANET_DG |
21087195, 23343562 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Progressive myoclonic epilepsy with dystonia |
Progressive Myoclonic Epilepsy With Dystonia |
Orphanet |
|
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Psychomotor Disorders |
Psychiatric disorders |
Pubtator |
31112829 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer`s cramp syndrome |
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer`s Cramp Syndrome |
Orphanet |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sagittal craniosynostosis |
Sagittal craniosynostosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Seizures |
Seizures |
Pubtator |
24291220, 24387994, 24729539, 30245510, 31112829, 32873933 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
BEFREE |
25557349 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural Hearing Loss (disorder) |
Hearing Loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
CLINVAR_DG |
24291220, 25169651 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sensorineural hearing loss, bilateral |
Sensorineural hearing loss |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Severe myopia |
Myopia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Sirenomelia |
Sirenomelia |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spasms Infantile |
Infantile spasms |
Pubtator |
24291220 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Spina Bifida Occulta |
Spina bifida occulta |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Status Epilepticus |
Status Epilepticus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
Pubtator |
30245510 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strabismus |
Strabismus |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Strawberry nevus of skin |
Strawberry Nevus Of Skin |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Thrombocytosis |
Thrombocytosis |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Tonic - clonic seizures |
Seizure |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ulcerative Colitis |
Ulcerative colitis |
BEFREE |
16178876, 28981648 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Unverricht-Lundborg Syndrome |
Myoclonic Epilepsy |
BEFREE |
25401298 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Usher Syndromes |
Usher syndrome |
Pubtator |
35580552 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Uveitis |
Uveitis |
BEFREE |
29518184 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| West Syndrome |
West Syndrome |
BEFREE |
23526554, 24291220 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Writer`s Cramp |
Writer`s Cramp |
HPO_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| X-linked infantile spasms |
Spasms X-Linked |
BEFREE |
30602030 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |