| Diseases |
Alias |
|
| Nephronophthisis 2 |
|
NPHP2
|
Nph2
|
|
Nephronophthisis 2, Infantile
|
Infantile Nephronophthisis 2
|
|
Infantile Nephronophthisis
|
Nephronophthisis, Type 2
|
|
|
| Infantile Nephronophthisis |
|
Autosomal Recessive Infantile Nphp
|
Autosomal Recessive Infantile Nephronophthisis
|
|
Nephronophthisis 2
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Juvenile Nephronophthisis |
|
Nephronophthisis
|
Nephronophthisis, Familial Juvenile
|
|
|
| Senior-Loken Syndrome 1 |
|
Senior-Loken Syndrome
|
Renal Dysplasia And Retinal Aplasia
|
|
Renal-Retinal Syndrome
|
Loken-Senior Syndrome
|
|
Juvenile Nephronophthisis With Leber Amaurosis
|
SLSN1
|
|
Senior-Loken Syndrome-1
|
Loken Senior Syndrome
|
|
Senior Loken Syndrome
|
Renal Dysplasia Retinal Aplasia
|
|
Nephronophthisis With Retinal Dystrophy
|
Renal Dysplasia-Retinal Aplasia Syndrome
|
|
Slsn
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| End Stage Renal Disease |
|
End Stage Renal Failure
|
End-Stage Kidney Disease
|
|
Kidney Failure, Chronic
|
Chronic Kidney Disease Stage 5
|
|
|
| Cystic Kidney Disease |
|
Renal Cyst
|
Simple Renal Cyst
|
|
Kidney Cysts
|
Kidney Diseases, Cystic
|
|
Renal Cysts
|
Kidney Cyst
|
|
Cystic Kidney
|
Congenital Cystic Kidney Disease
|
|
Cystic Kidney Diseases
|
Bosniak 1 Cyst
|
|
|
| Nephronophthisis 1 |
|
NPHP1
|
Nephronophthisis, Familial Juvenile
|
|
Nph1
|
Nephronophthisis 1, Juvenile
|
|
Juvenile Nephronophthisis 1
|
Familial Juvenile Nephronophthisis 1
|
|
Nephronophthisis, Type 1
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Interstitial Nephritis |
|
Nephritis, Interstitial
|
Renal Tubulo-Interstitial Disease
|
|
Nephritis Interstitial
|
Nephritis, Tubulointerstitial
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Nephronophthisis 9 |
|
NPHP9
|
Nephronophthisis, Type 9
|
|
|
| Pulmonary Subvalvular Stenosis |
|
Pulmonary Infundibular Stenosis
|
Congenital Infundibular Stenosis
|
|
Infundibular Pulmonic Stenosis
|
Infundibular Pulmonic Stenosis, Congenital
|
|
Subvalvular Pulmonic Stenosis
|
|
|
| Nephronophthisis 7 |
|
NPHP7
|
Nephronophthisis, Type 7
|
|
|
| Nephronophthisis 15 |
|
NPHP15
|
Nephronophthisis, Type 15
|
|
|
| Plague |
|
Yersiniosis
|
Yersinia Infections
|
|
Infection By Yersinia Pestis
|
Pasteurella Pestis Infection
|
|
Pestilential Fever
|
Yersinia Pestis Infection
|
|
|
| Biliary Atresia |
|
Congenital Biliary Atresia
|
Isolated Biliary Atresia
|
|
Isolated Atresia Of Bile Ducts
|
Non-Syndromic Biliary Atresia
|
|
Atresia Of Bile Duct
|
Biliary Atresia, Congenital
|
|
Atresia Of Bile Ducts
|
Bile Duct Atresia
|
|
Congenital Bile Duct Atresia
|
Ba - [Biliary Atresia]
|
|
Impervious Bile Duct
|
Atresia Of Common Duct
|
|
Biliary Duct Atresia
|
Bile Ductal Atresia
|
|
Cystic Duct Atresia
|
|
|
| Nephronophthisis 16 |
|
NPHP16
|
Nephronophthisis, Type 16
|
|
|
| Kidney Disease |
|
Renal Failure
|
Kidney Failure
|
|
Kidney Diseases
|
Nephropathy
|
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
|
Renal Anomaly
|
Kidney Dysfunction
|
|
Renal Disease
|
Nephropathies
|
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
| Nephronophthisis 14 |
|
Joubert Syndrome 19
|
NPHP14
|
|
JBTS19
|
Nephronophthisis, Type 14
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Nephronophthisis 19 |
|
NPHP19
|
Nephronophthisis, Type 19
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Renal-Hepatic-Pancreatic Dysplasia |
|
Ivemark'S Syndrome
|
Ivemark Ii Syndrome
|
|
Renohepaticopancreatic Dysplasia
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Autosomal Recessive Polycystic Kidney Disease
|
Arpkd
|
|
Polycystic Kidney Disease, Autosomal Recessive
|
Polycystic Kidney And Hepatic Disease 1
|
|
Pkhd1
|
PKD4
|
|
Polycystic Kidney Disease 4 With Or Without Hepatic Disease
|
Polycystic Kidney Disease, Infantile, Type I
|
|
Polycystic Kidney Disease, Infantile Type
|
Polycystic Kidney, Autosomal Recessive
|
|
Pkd3, Formerly
|
Polycystic Kidney Disease 4, With Or Without Hepatic Disease
|
|
Arpkd/Chf
|
Ar-Pkd
|
|
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease
|
Infantile Polycystic Kidney Disease Type I
|
|
Pkd3
|
Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
|
|
Polycystic Kidney Disease 3, Autosomal Dominant
|
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Caroli Disease |
|
Caroli Disease Isolated
|
Congenital Polycystic Dilatation Of Intrahepatic Bile Ducts
|
|
Cystic Dilatation Of The Intrahepatic Biliary Tree
|
Caroli Syndrome
|
|
Carolis Disease
|
|
|
| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
|
Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
|
| Joubert Syndrome 3 |
|
JBTS3
|
Joubert Syndrome With Ocular Defect
|
|
Joubert Syndrome With Ocular Anomalies
|
Js-O
|
|
Joubert Syndrome With Retinopathy
|
Joubert Syndrome-3
|
|
Joubert Syndrome, Type 3
|
|
|
| Cranioectodermal Dysplasia |
|
Sensenbrenner Syndrome
|
Levin Syndrome 1
|
|
Ced
|
Levin Syndrome
|
|
Dysplasia, Cranioectodermal
|
|
|
| Coach Syndrome 1 |
|
Coach Syndrome
|
Joubert Syndrome With Congenital Hepatic Fibrosis
|
|
Gentile Syndrome
|
Joubert Syndrome With Hepatic Defect
|
|
Js-H
|
COACH1
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis
|
|
Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis
|
Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
|
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic Kidney Disease, Adult Type
|
Adpkd
|
|
Polycystic Kidney Diseases
|
Polycystic Kidney, Autosomal Dominant
|
|
Congenital Biliary Ectasias
|
Polycystic Kidney And Hepatic Disease 1
|
|
Polycystic Kidney Disease, Autosomal Dominant
|
Kidney, Polycystic, Disease, Autosomal Dominant
|
|
Adult Polycystic Kidney Disease
|
Polycystic Kidney, Adult Type
|
|
Apckd - [Autosomal Polycystic Kidney Disease]
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Right Atrial Isomerism |
|
Ivemark Syndrome
|
Asplenia With Cardiovascular Anomalies
|
|
RAI
|
Asplenia Syndrome
|
|
Asplenia
|
Right Isomerism
|
|
Splenic Agenesis Syndrome
|
Bilateral Right-Sidedness Sequence
|
|
Right Sided Atrial Isomerism
|
Isomerism Of Right Atrial Appendage
|
|
Heterotaxy, Visceroatrial, Autosomal Recessive
|
Polyasplenia
|
|
Vah, Autosomal Recessive
|
Atrial Isomerism, Right
|
|
Congenital Absence Of Spleen
|
Bilateral Right-Sidedness
|
|
|
| Polycystic Liver Disease |
|
Autosomal Dominant Polycystic Liver Disease
|
Isolated Polycystic Liver Disease
|
|
Pcld
|
Congenital Cystic Liver Disease
|
|
Congenital Hepatic Cyst
|
Fibrocystic Liver Disease
|
|
Isolated Autosomal Dominant Polycystic Liver Disease
|
Adpcld
|
|
Liver Disease, Polycystic
|
Multiple Cysts Of Liver
|
|
Pld - [Polycystic Liver Disease]
|
Polycystic Liver Disorder
|
|
Polycystic Liver
|
Congenital Polycystic Disease Of Liver
|
|
Congenital Polycystic Liver Disease
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 1
|
Jeune Syndrome
|
|
SRTD1
|
Atd1
|
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Atd
|
Asphyxiating Thoracic Dystrophy
|
|
Chondroectodermal Dysplasia-Like Syndrome
|
Infantile Thoracic Dystrophy
|
|
Jeune'S Syndrome
|
Thoracic Pelvic Phalangeal Dystrophy
|
|
Jeune Thoracic Dystrophy
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
